UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.91220918C>A | CA373835233 | AUH | c.730G>T (p.Asp244Tyr) c.643G>T (p.Asp215Tyr) n.2G>T c.760G>T (p.Asp254Tyr) c.268G>T (p.Asp90Tyr) c.673G>T (p.Asp225Tyr) c.406G>T (p.Asp136Tyr) c.403G>T (p.Asp135Tyr) n.955G>T n.907G>T | |
| 9 | g.91220918C= | CA1863689031 | AUH | c.730G= (p.Asp244=) c.643G= (p.Asp215=) n.2G= c.760G= (p.Asp254=) c.268G= (p.Asp90=) c.673G= (p.Asp225=) c.406G= (p.Asp136=) c.403G= (p.Asp135=) n.955G= n.907G= | |
| 9 | g.91220918C>G | CA373835234 | AUH | c.730G>C (p.Asp244His) c.643G>C (p.Asp215His) n.2G>C c.760G>C (p.Asp254His) c.268G>C (p.Asp90His) c.673G>C (p.Asp225His) c.406G>C (p.Asp136His) c.403G>C (p.Asp135His) n.955G>C n.907G>C | |
| 9 | g.91220918C>T | CA320067 | AUH | c.730G>A (p.Asp244Asn) c.643G>A (p.Asp215Asn) n.2G>A c.760G>A (p.Asp254Asn) c.268G>A (p.Asp90Asn) c.673G>A (p.Asp225Asn) c.406G>A (p.Asp136Asn) c.403G>A (p.Asp135Asn) n.955G>A n.907G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91220919G>A | CA5119745 | AUH | c.729C>T (p.Leu243=) c.642C>T (p.Leu214=) n.1C>T c.759C>T (p.Leu253=) c.267C>T (p.Leu89=) c.672C>T (p.Leu224=) c.405C>T (p.Leu135=) c.402C>T (p.Leu134=) n.954C>T n.906C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 9 | g.91220919G>C | CA5119746 | AUH | c.729C>G (p.Leu243=) c.642C>G (p.Leu214=) n.1C>G c.759C>G (p.Leu253=) c.267C>G (p.Leu89=) c.672C>G (p.Leu224=) c.405C>G (p.Leu135=) c.402C>G (p.Leu134=) n.954C>G n.906C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220919G= | CA1863689035 | AUH | c.729C= (p.Leu243=) c.642C= (p.Leu214=) n.1C= c.759C= (p.Leu253=) c.267C= (p.Leu89=) c.672C= (p.Leu224=) c.405C= (p.Leu135=) c.402C= (p.Leu134=) n.954C= n.906C= | |
| 9 | g.91220919G>T | CA5119747 | AUH | c.729C>A (p.Leu243=) c.642C>A (p.Leu214=) n.1C>A c.759C>A (p.Leu253=) c.267C>A (p.Leu89=) c.672C>A (p.Leu224=) c.405C>A (p.Leu135=) c.402C>A (p.Leu134=) n.954C>A n.906C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220920A>C | CA373835235 | AUH | c.728T>G (p.Leu243Arg) c.641T>G (p.Leu214Arg) c.758T>G (p.Leu253Arg) c.266T>G (p.Leu89Arg) c.671T>G (p.Leu224Arg) c.404T>G (p.Leu135Arg) c.401T>G (p.Leu134Arg) n.953T>G n.905T>G | |
| 9 | g.91220920A>G | CA373835236 | AUH | c.728T>C (p.Leu243Pro) c.641T>C (p.Leu214Pro) c.758T>C (p.Leu253Pro) c.266T>C (p.Leu89Pro) c.671T>C (p.Leu224Pro) c.404T>C (p.Leu135Pro) c.401T>C (p.Leu134Pro) n.953T>C n.905T>C | |
| 9 | g.91220920A>T | CA373835237 | AUH | c.728T>A (p.Leu243His) c.641T>A (p.Leu214His) c.758T>A (p.Leu253His) c.266T>A (p.Leu89His) c.671T>A (p.Leu224His) c.404T>A (p.Leu135His) c.401T>A (p.Leu134His) n.953T>A n.905T>A | |
| 9 | g.91220921G>A | CA373835240 | AUH | c.727C>T (p.Leu243Phe) c.640C>T (p.Leu214Phe) c.757C>T (p.Leu253Phe) c.265C>T (p.Leu89Phe) c.670C>T (p.Leu224Phe) c.403C>T (p.Leu135Phe) c.400C>T (p.Leu134Phe) n.952C>T n.904C>T | |
| 9 | g.91220921G>C | CA373835239 | AUH | c.727C>G (p.Leu243Val) c.640C>G (p.Leu214Val) c.757C>G (p.Leu253Val) c.265C>G (p.Leu89Val) c.670C>G (p.Leu224Val) c.403C>G (p.Leu135Val) c.400C>G (p.Leu134Val) n.952C>G n.904C>G | gnomAD v4 |
| 9 | g.91220921G>T | CA373835238 | AUH | c.727C>A (p.Leu243Ile) c.640C>A (p.Leu214Ile) c.757C>A (p.Leu253Ile) c.265C>A (p.Leu89Ile) c.670C>A (p.Leu224Ile) c.403C>A (p.Leu135Ile) c.400C>A (p.Leu134Ile) n.952C>A n.904C>A | COSMIC |
| 9 | g.91220922G>A | CA466225808 | AUH | c.726C>T (p.Val242=) c.639C>T (p.Val213=) c.756C>T (p.Val252=) c.264C>T (p.Val88=) c.669C>T (p.Val223=) c.402C>T (p.Val134=) c.399C>T (p.Val133=) n.951C>T n.903C>T | gnomAD v4 |
| 9 | g.91220922G>C | CA466225804 | AUH | c.726C>G (p.Val242=) c.639C>G (p.Val213=) c.756C>G (p.Val252=) c.264C>G (p.Val88=) c.669C>G (p.Val223=) c.402C>G (p.Val134=) c.399C>G (p.Val133=) n.951C>G n.903C>G | |
| 9 | g.91220922G>T | CA466225806 | AUH | c.726C>A (p.Val242=) c.639C>A (p.Val213=) c.756C>A (p.Val252=) c.264C>A (p.Val88=) c.669C>A (p.Val223=) c.402C>A (p.Val134=) c.399C>A (p.Val133=) n.951C>A n.903C>A | gnomAD v4 |
| 9 | g.91220923A>C | CA373835241 | AUH | c.725T>G (p.Val242Gly) c.638T>G (p.Val213Gly) c.755T>G (p.Val252Gly) c.263T>G (p.Val88Gly) c.668T>G (p.Val223Gly) c.401T>G (p.Val134Gly) c.398T>G (p.Val133Gly) n.950T>G n.902T>G | |
| 9 | g.91220923A>G | CA373835242 | AUH | c.725T>C (p.Val242Ala) c.638T>C (p.Val213Ala) c.755T>C (p.Val252Ala) c.263T>C (p.Val88Ala) c.668T>C (p.Val223Ala) c.401T>C (p.Val134Ala) c.398T>C (p.Val133Ala) n.950T>C n.902T>C | |
| 9 | g.91220923A>T | CA373835243 | AUH | c.725T>A (p.Val242Asp) c.638T>A (p.Val213Asp) c.755T>A (p.Val252Asp) c.263T>A (p.Val88Asp) c.668T>A (p.Val223Asp) c.401T>A (p.Val134Asp) c.398T>A (p.Val133Asp) n.950T>A n.902T>A | |
| 9 | g.91220924C>A | CA373835244 | AUH | c.724G>T (p.Val242Phe) c.637G>T (p.Val213Phe) c.754G>T (p.Val252Phe) c.262G>T (p.Val88Phe) c.667G>T (p.Val223Phe) c.400G>T (p.Val134Phe) c.397G>T (p.Val133Phe) n.949G>T n.901G>T | |
| 9 | g.91220924C>G | CA373835245 | AUH | c.724G>C (p.Val242Leu) c.637G>C (p.Val213Leu) c.754G>C (p.Val252Leu) c.262G>C (p.Val88Leu) c.667G>C (p.Val223Leu) c.400G>C (p.Val134Leu) c.397G>C (p.Val133Leu) n.949G>C n.901G>C | |
| 9 | g.91220924C>T | CA373835246 | AUH | c.724G>A (p.Val242Ile) c.637G>A (p.Val213Ile) c.754G>A (p.Val252Ile) c.262G>A (p.Val88Ile) c.667G>A (p.Val223Ile) c.400G>A (p.Val134Ile) c.397G>A (p.Val133Ile) n.949G>A n.901G>A | gnomAD v4 |
| 9 | g.91220925T>A | CA466225813 | AUH | c.723A>T (p.Arg241=) c.636A>T (p.Arg212=) c.753A>T (p.Arg251=) c.261A>T (p.Arg87=) c.666A>T (p.Arg222=) c.399A>T (p.Arg133=) c.396A>T (p.Arg132=) n.948A>T n.900A>T | |
| 9 | g.91220925T>C | CA466225815 | AUH | c.723A>G (p.Arg241=) c.636A>G (p.Arg212=) c.753A>G (p.Arg251=) c.261A>G (p.Arg87=) c.666A>G (p.Arg222=) c.399A>G (p.Arg133=) c.396A>G (p.Arg132=) n.948A>G n.900A>G | gnomAD v4 |
| 9 | g.91220925T>G | CA466225816 | AUH | c.723A>C (p.Arg241=) c.636A>C (p.Arg212=) c.753A>C (p.Arg251=) c.261A>C (p.Arg87=) c.666A>C (p.Arg222=) c.399A>C (p.Arg133=) c.396A>C (p.Arg132=) n.948A>C n.900A>C | gnomAD v4 |
| 9 | g.91220926C>A | CA373835247 | AUH | c.722G>T (p.Arg241Leu) c.635G>T (p.Arg212Leu) c.752G>T (p.Arg251Leu) c.260G>T (p.Arg87Leu) c.665G>T (p.Arg222Leu) c.398G>T (p.Arg133Leu) c.395G>T (p.Arg132Leu) n.947G>T n.899G>T | gnomAD v4 |
| 9 | g.91220926C= | CA1863689039 | AUH | c.722G= (p.Arg241=) c.635G= (p.Arg212=) c.752G= (p.Arg251=) c.260G= (p.Arg87=) c.665G= (p.Arg222=) c.398G= (p.Arg133=) c.395G= (p.Arg132=) n.947G= n.899G= | |
| 9 | g.91220926C>G | CA373835248 | AUH | c.722G>C (p.Arg241Pro) c.635G>C (p.Arg212Pro) c.752G>C (p.Arg251Pro) c.260G>C (p.Arg87Pro) c.665G>C (p.Arg222Pro) c.398G>C (p.Arg133Pro) c.395G>C (p.Arg132Pro) n.947G>C n.899G>C | |
| 9 | g.91220926C>T | CA373835249 | AUH | c.722G>A (p.Arg241Gln) c.635G>A (p.Arg212Gln) c.752G>A (p.Arg251Gln) c.260G>A (p.Arg87Gln) c.665G>A (p.Arg222Gln) c.398G>A (p.Arg133Gln) c.395G>A (p.Arg132Gln) n.947G>A n.899G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220927G>A | CA5119748 | AUH | c.721C>T (p.Arg241Ter) c.634C>T (p.Arg212Ter) c.751C>T (p.Arg251Ter) c.259C>T (p.Arg87Ter) c.664C>T (p.Arg222Ter) c.397C>T (p.Arg133Ter) c.394C>T (p.Arg132Ter) n.946C>T n.898C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91220927G>C | CA373835250 | AUH | c.721C>G (p.Arg241Gly) c.634C>G (p.Arg212Gly) c.751C>G (p.Arg251Gly) c.259C>G (p.Arg87Gly) c.664C>G (p.Arg222Gly) c.397C>G (p.Arg133Gly) c.394C>G (p.Arg132Gly) n.946C>G n.898C>G | |
| 9 | g.91220927G= | CA1863689042 | AUH | c.721C= (p.Arg241=) c.634C= (p.Arg212=) c.751C= (p.Arg251=) c.259C= (p.Arg87=) c.664C= (p.Arg222=) c.397C= (p.Arg133=) c.394C= (p.Arg132=) n.946C= n.898C= | |
| 9 | g.91220927G>T | CA466225820 | AUH | c.721C>A (p.Arg241=) c.634C>A (p.Arg212=) c.751C>A (p.Arg251=) c.259C>A (p.Arg87=) c.664C>A (p.Arg222=) c.397C>A (p.Arg133=) c.394C>A (p.Arg132=) n.946C>A n.898C>A | |
| 9 | g.91220928C>A | CA466225824 | AUH | c.720G>T (p.Ala240=) c.633G>T (p.Ala211=) c.750G>T (p.Ala250=) c.258G>T (p.Ala86=) c.663G>T (p.Ala221=) c.396G>T (p.Ala132=) c.393G>T (p.Ala131=) n.945G>T n.897G>T | |
| 9 | g.91220928C= | CA1863689045 | AUH | c.720G= (p.Ala240=) c.633G= (p.Ala211=) c.750G= (p.Ala250=) c.258G= (p.Ala86=) c.663G= (p.Ala221=) c.396G= (p.Ala132=) c.393G= (p.Ala131=) n.945G= n.897G= | |
| 9 | g.91220928C>G | CA466225826 | AUH | c.720G>C (p.Ala240=) c.633G>C (p.Ala211=) c.750G>C (p.Ala250=) c.258G>C (p.Ala86=) c.663G>C (p.Ala221=) c.396G>C (p.Ala132=) c.393G>C (p.Ala131=) n.945G>C n.897G>C | |
| 9 | g.91220928C>T | CA5119749 | AUH | c.720G>A (p.Ala240=) c.633G>A (p.Ala211=) c.750G>A (p.Ala250=) c.258G>A (p.Ala86=) c.663G>A (p.Ala221=) c.396G>A (p.Ala132=) c.393G>A (p.Ala131=) n.945G>A n.897G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220929G>A | CA5119750 | AUH | c.719C>T (p.Ala240Val) c.632C>T (p.Ala211Val) c.749C>T (p.Ala250Val) c.257C>T (p.Ala86Val) c.662C>T (p.Ala221Val) c.395C>T (p.Ala132Val) c.392C>T (p.Ala131Val) n.944C>T n.896C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91220929G>C | CA373835252 | AUH | c.719C>G (p.Ala240Gly) c.632C>G (p.Ala211Gly) c.749C>G (p.Ala250Gly) c.257C>G (p.Ala86Gly) c.662C>G (p.Ala221Gly) c.395C>G (p.Ala132Gly) c.392C>G (p.Ala131Gly) n.944C>G n.896C>G | |
| 9 | g.91220929G= | CA1863689048 | AUH | c.719C= (p.Ala240=) c.632C= (p.Ala211=) c.749C= (p.Ala250=) c.257C= (p.Ala86=) c.662C= (p.Ala221=) c.395C= (p.Ala132=) c.392C= (p.Ala131=) n.944C= n.896C= | |
| 9 | g.91220929G>T | CA373835251 | AUH | c.719C>A (p.Ala240Glu) c.632C>A (p.Ala211Glu) c.749C>A (p.Ala250Glu) c.257C>A (p.Ala86Glu) c.662C>A (p.Ala221Glu) c.395C>A (p.Ala132Glu) c.392C>A (p.Ala131Glu) n.944C>A n.896C>A | |
| 9 | g.91220930C>A | CA373835253 | AUH | c.718G>T (p.Ala240Ser) c.631G>T (p.Ala211Ser) c.748G>T (p.Ala250Ser) c.256G>T (p.Ala86Ser) c.661G>T (p.Ala221Ser) c.394G>T (p.Ala132Ser) c.391G>T (p.Ala131Ser) n.943G>T n.895G>T | |
| 9 | g.91220930C>G | CA373835254 | AUH | c.718G>C (p.Ala240Pro) c.631G>C (p.Ala211Pro) c.748G>C (p.Ala250Pro) c.256G>C (p.Ala86Pro) c.661G>C (p.Ala221Pro) c.394G>C (p.Ala132Pro) c.391G>C (p.Ala131Pro) n.943G>C n.895G>C | |
| 9 | g.91220930C>T | CA373835255 | AUH | c.718G>A (p.Ala240Thr) c.631G>A (p.Ala211Thr) c.748G>A (p.Ala250Thr) c.256G>A (p.Ala86Thr) c.661G>A (p.Ala221Thr) c.394G>A (p.Ala132Thr) c.391G>A (p.Ala131Thr) n.943G>A n.895G>A | |
| 9 | g.91220931A>C | CA466225834 | AUH | c.717T>G (p.Ser239=) c.630T>G (p.Ser210=) c.747T>G (p.Ser249=) c.255T>G (p.Ser85=) c.660T>G (p.Ser220=) c.393T>G (p.Ser131=) c.390T>G (p.Ser130=) n.942T>G n.894T>G | |
| 9 | g.91220931A>G | CA466225836 | AUH | c.717T>C (p.Ser239=) c.630T>C (p.Ser210=) c.747T>C (p.Ser249=) c.255T>C (p.Ser85=) c.660T>C (p.Ser220=) c.393T>C (p.Ser131=) c.390T>C (p.Ser130=) n.942T>C n.894T>C | |
| 9 | g.91220931A>T | CA466225837 | AUH | c.717T>A (p.Ser239=) c.630T>A (p.Ser210=) c.747T>A (p.Ser249=) c.255T>A (p.Ser85=) c.660T>A (p.Ser220=) c.393T>A (p.Ser131=) c.390T>A (p.Ser130=) n.942T>A n.894T>A | |
| 9 | g.91220932G>A | CA373835256 | AUH | c.716C>T (p.Ser239Phe) c.629C>T (p.Ser210Phe) c.746C>T (p.Ser249Phe) c.254C>T (p.Ser85Phe) c.659C>T (p.Ser220Phe) c.392C>T (p.Ser131Phe) c.389C>T (p.Ser130Phe) n.941C>T n.893C>T | gnomAD v4 |
| 9 | g.91220932G>C | CA373835257 | AUH | c.716C>G (p.Ser239Cys) c.629C>G (p.Ser210Cys) c.746C>G (p.Ser249Cys) c.254C>G (p.Ser85Cys) c.659C>G (p.Ser220Cys) c.392C>G (p.Ser131Cys) c.389C>G (p.Ser130Cys) n.941C>G n.893C>G | |
| 9 | g.91220932G= | CA1863689053 | AUH | c.716C= (p.Ser239=) c.629C= (p.Ser210=) c.746C= (p.Ser249=) c.254C= (p.Ser85=) c.659C= (p.Ser220=) c.392C= (p.Ser131=) c.389C= (p.Ser130=) n.941C= n.893C= | |
| 9 | g.91220932G>T | CA5119751 | AUH | c.716C>A (p.Ser239Tyr) c.629C>A (p.Ser210Tyr) c.746C>A (p.Ser249Tyr) c.254C>A (p.Ser85Tyr) c.659C>A (p.Ser220Tyr) c.392C>A (p.Ser131Tyr) c.389C>A (p.Ser130Tyr) n.941C>A n.893C>A | dbSNP ExAC gnomAD v2 |
| 9 | g.91220933A>C | CA373835258 | AUH | c.715T>G (p.Ser239Ala) c.628T>G (p.Ser210Ala) c.745T>G (p.Ser249Ala) c.253T>G (p.Ser85Ala) c.658T>G (p.Ser220Ala) c.391T>G (p.Ser131Ala) c.388T>G (p.Ser130Ala) n.940T>G n.892T>G | |
| 9 | g.91220933A>G | CA373835260 | AUH | c.715T>C (p.Ser239Pro) c.628T>C (p.Ser210Pro) c.745T>C (p.Ser249Pro) c.253T>C (p.Ser85Pro) c.658T>C (p.Ser220Pro) c.391T>C (p.Ser131Pro) c.388T>C (p.Ser130Pro) n.940T>C n.892T>C | |
| 9 | g.91220933A>T | CA373835259 | AUH | c.715T>A (p.Ser239Thr) c.628T>A (p.Ser210Thr) c.745T>A (p.Ser249Thr) c.253T>A (p.Ser85Thr) c.658T>A (p.Ser220Thr) c.391T>A (p.Ser131Thr) c.388T>A (p.Ser130Thr) n.940T>A n.892T>A | |
| 9 | g.91220934G>A | CA466225844 | AUH | c.714C>T (p.Phe238=) c.627C>T (p.Phe209=) c.744C>T (p.Phe248=) c.252C>T (p.Phe84=) c.657C>T (p.Phe219=) c.390C>T (p.Phe130=) c.387C>T (p.Phe129=) n.939C>T n.891C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220934G>C | CA373835261 | AUH | c.714C>G (p.Phe238Leu) c.627C>G (p.Phe209Leu) c.744C>G (p.Phe248Leu) c.252C>G (p.Phe84Leu) c.657C>G (p.Phe219Leu) c.390C>G (p.Phe130Leu) c.387C>G (p.Phe129Leu) n.939C>G n.891C>G | |
| 9 | g.91220934G= | CA1863689055 | AUH | c.714C= (p.Phe238=) c.627C= (p.Phe209=) c.744C= (p.Phe248=) c.252C= (p.Phe84=) c.657C= (p.Phe219=) c.390C= (p.Phe130=) c.387C= (p.Phe129=) n.939C= n.891C= | |
| 9 | g.91220934G>T | CA373835262 | AUH | c.714C>A (p.Phe238Leu) c.627C>A (p.Phe209Leu) c.744C>A (p.Phe248Leu) c.252C>A (p.Phe84Leu) c.657C>A (p.Phe219Leu) c.390C>A (p.Phe130Leu) c.387C>A (p.Phe129Leu) n.939C>A n.891C>A | gnomAD v4 COSMIC |
| 9 | g.91220935A= | CA1863689060 | AUH | c.713T= (p.Phe238=) c.626T= (p.Phe209=) c.743T= (p.Phe248=) c.251T= (p.Phe84=) c.656T= (p.Phe219=) c.389T= (p.Phe130=) c.386T= (p.Phe129=) n.938T= n.890T= | |
| 9 | g.91220935A>C | CA373835263 | AUH | c.713T>G (p.Phe238Cys) c.626T>G (p.Phe209Cys) c.743T>G (p.Phe248Cys) c.251T>G (p.Phe84Cys) c.656T>G (p.Phe219Cys) c.389T>G (p.Phe130Cys) c.386T>G (p.Phe129Cys) n.938T>G n.890T>G | |
| 9 | g.91220935A>G | CA373835264 | AUH | c.713T>C (p.Phe238Ser) c.626T>C (p.Phe209Ser) c.743T>C (p.Phe248Ser) c.251T>C (p.Phe84Ser) c.656T>C (p.Phe219Ser) c.389T>C (p.Phe130Ser) c.386T>C (p.Phe129Ser) n.938T>C n.890T>C | ClinVar dbSNP |
| 9 | g.91220935A>T | CA373835265 | AUH | c.713T>A (p.Phe238Tyr) c.626T>A (p.Phe209Tyr) c.743T>A (p.Phe248Tyr) c.251T>A (p.Phe84Tyr) c.656T>A (p.Phe219Tyr) c.389T>A (p.Phe130Tyr) c.386T>A (p.Phe129Tyr) n.938T>A n.890T>A | |
| 9 | g.91220936A= | CA1863689065 | AUH | c.712T= (p.Phe238=) c.625T= (p.Phe209=) c.742T= (p.Phe248=) c.250T= (p.Phe84=) c.655T= (p.Phe219=) c.388T= (p.Phe130=) c.385T= (p.Phe129=) n.937T= n.889T= | |
| 9 | g.91220936A>C | CA373835267 | AUH | c.712T>G (p.Phe238Val) c.625T>G (p.Phe209Val) c.742T>G (p.Phe248Val) c.250T>G (p.Phe84Val) c.655T>G (p.Phe219Val) c.388T>G (p.Phe130Val) c.385T>G (p.Phe129Val) n.937T>G n.889T>G | |
| 9 | g.91220936A>G | CA195893154 | AUH | c.712T>C (p.Phe238Leu) c.625T>C (p.Phe209Leu) c.742T>C (p.Phe248Leu) c.250T>C (p.Phe84Leu) c.655T>C (p.Phe219Leu) c.388T>C (p.Phe130Leu) c.385T>C (p.Phe129Leu) n.937T>C n.889T>C | ClinVar dbSNP gnomAD v4 COSMIC |
| 9 | g.91220936A>T | CA373835266 | AUH | c.712T>A (p.Phe238Ile) c.625T>A (p.Phe209Ile) c.742T>A (p.Phe248Ile) c.250T>A (p.Phe84Ile) c.655T>A (p.Phe219Ile) c.388T>A (p.Phe130Ile) c.385T>A (p.Phe129Ile) n.937T>A n.889T>A | |
| 9 | g.91220937T>A | CA466225851 | AUH | c.711A>T (p.Ile237=) c.624A>T (p.Ile208=) c.741A>T (p.Ile247=) c.249A>T (p.Ile83=) c.654A>T (p.Ile218=) c.387A>T (p.Ile129=) c.384A>T (p.Ile128=) n.936A>T n.888A>T | |
| 9 | g.91220937T>C | CA373835268 | AUH | c.711A>G (p.Ile237Met) c.624A>G (p.Ile208Met) c.741A>G (p.Ile247Met) c.249A>G (p.Ile83Met) c.654A>G (p.Ile218Met) c.387A>G (p.Ile129Met) c.384A>G (p.Ile128Met) n.936A>G n.888A>G | |
| 9 | g.91220937T>G | CA466225854 | AUH | c.711A>C (p.Ile237=) c.624A>C (p.Ile208=) c.741A>C (p.Ile247=) c.249A>C (p.Ile83=) c.654A>C (p.Ile218=) c.387A>C (p.Ile129=) c.384A>C (p.Ile128=) n.936A>C n.888A>C | |
| 9 | g.91220938A>C | CA373835269 | AUH | c.710T>G (p.Ile237Arg) c.623T>G (p.Ile208Arg) c.740T>G (p.Ile247Arg) c.248T>G (p.Ile83Arg) c.653T>G (p.Ile218Arg) c.386T>G (p.Ile129Arg) c.383T>G (p.Ile128Arg) n.935T>G n.887T>G | |
| 9 | g.91220938A>G | CA373835271 | AUH | c.710T>C (p.Ile237Thr) c.623T>C (p.Ile208Thr) c.740T>C (p.Ile247Thr) c.248T>C (p.Ile83Thr) c.653T>C (p.Ile218Thr) c.386T>C (p.Ile129Thr) c.383T>C (p.Ile128Thr) n.935T>C n.887T>C | |
| 9 | g.91220938A>T | CA373835270 | AUH | c.710T>A (p.Ile237Lys) c.623T>A (p.Ile208Lys) c.740T>A (p.Ile247Lys) c.248T>A (p.Ile83Lys) c.653T>A (p.Ile218Lys) c.386T>A (p.Ile129Lys) c.383T>A (p.Ile128Lys) n.935T>A n.887T>A | |
| 9 | g.91220939T>A | CA373835272 | AUH | c.709A>T (p.Ile237Leu) c.622A>T (p.Ile208Leu) c.739A>T (p.Ile247Leu) c.247A>T (p.Ile83Leu) c.652A>T (p.Ile218Leu) c.385A>T (p.Ile129Leu) c.382A>T (p.Ile128Leu) n.934A>T n.886A>T | |
| 9 | g.91220939T>C | CA5119752 | AUH | c.709A>G (p.Ile237Val) c.622A>G (p.Ile208Val) c.739A>G (p.Ile247Val) c.247A>G (p.Ile83Val) c.652A>G (p.Ile218Val) c.385A>G (p.Ile129Val) c.382A>G (p.Ile128Val) n.934A>G n.886A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220939T>G | CA373835273 | AUH | c.709A>C (p.Ile237Leu) c.622A>C (p.Ile208Leu) c.739A>C (p.Ile247Leu) c.247A>C (p.Ile83Leu) c.652A>C (p.Ile218Leu) c.385A>C (p.Ile129Leu) c.382A>C (p.Ile128Leu) n.934A>C n.886A>C | |
| 9 | g.91220939T= | CA1863689069 | AUH | c.709A= (p.Ile237=) c.622A= (p.Ile208=) c.739A= (p.Ile247=) c.247A= (p.Ile83=) c.652A= (p.Ile218=) c.385A= (p.Ile129=) c.382A= (p.Ile128=) n.934A= n.886A= | |
| 9 | g.91220940G>A | CA466225861 | AUH | c.708C>T (p.Leu236=) c.621C>T (p.Leu207=) c.738C>T (p.Leu246=) c.246C>T (p.Leu82=) c.651C>T (p.Leu217=) c.384C>T (p.Leu128=) c.381C>T (p.Leu127=) n.933C>T n.885C>T | |
| 9 | g.91220940G>C | CA466225862 | AUH | c.708C>G (p.Leu236=) c.621C>G (p.Leu207=) c.738C>G (p.Leu246=) c.246C>G (p.Leu82=) c.651C>G (p.Leu217=) c.384C>G (p.Leu128=) c.381C>G (p.Leu127=) n.933C>G n.885C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220940G= | CA1863689071 | AUH | c.708C= (p.Leu236=) c.621C= (p.Leu207=) c.738C= (p.Leu246=) c.246C= (p.Leu82=) c.651C= (p.Leu217=) c.384C= (p.Leu128=) c.381C= (p.Leu127=) n.933C= n.885C= | |
| 9 | g.91220940G>T | CA466225864 | AUH | c.708C>A (p.Leu236=) c.621C>A (p.Leu207=) c.738C>A (p.Leu246=) c.246C>A (p.Leu82=) c.651C>A (p.Leu217=) c.384C>A (p.Leu128=) c.381C>A (p.Leu127=) n.933C>A n.885C>A | |
| 9 | g.91220941A>C | CA373835274 | AUH | c.707T>G (p.Leu236Arg) c.620T>G (p.Leu207Arg) c.737T>G (p.Leu246Arg) c.245T>G (p.Leu82Arg) c.650T>G (p.Leu217Arg) c.383T>G (p.Leu128Arg) c.380T>G (p.Leu127Arg) n.932T>G n.884T>G | |
| 9 | g.91220941A>G | CA373835275 | AUH | c.707T>C (p.Leu236Pro) c.620T>C (p.Leu207Pro) c.737T>C (p.Leu246Pro) c.245T>C (p.Leu82Pro) c.650T>C (p.Leu217Pro) c.383T>C (p.Leu128Pro) c.380T>C (p.Leu127Pro) n.932T>C n.884T>C | |
| 9 | g.91220941A>T | CA373835276 | AUH | c.707T>A (p.Leu236His) c.620T>A (p.Leu207His) c.737T>A (p.Leu246His) c.245T>A (p.Leu82His) c.650T>A (p.Leu217His) c.383T>A (p.Leu128His) c.380T>A (p.Leu127His) n.932T>A n.884T>A | |
| 9 | g.91220942G>A | CA373835277 | AUH | c.706C>T (p.Leu236Phe) c.619C>T (p.Leu207Phe) c.736C>T (p.Leu246Phe) c.244C>T (p.Leu82Phe) c.649C>T (p.Leu217Phe) c.382C>T (p.Leu128Phe) c.379C>T (p.Leu127Phe) n.931C>T n.883C>T | |
| 9 | g.91220942G>C | CA373835278 | AUH | c.706C>G (p.Leu236Val) c.619C>G (p.Leu207Val) c.736C>G (p.Leu246Val) c.244C>G (p.Leu82Val) c.649C>G (p.Leu217Val) c.382C>G (p.Leu128Val) c.379C>G (p.Leu127Val) n.931C>G n.883C>G | |
| 9 | g.91220942G>T | CA373835279 | AUH | c.706C>A (p.Leu236Ile) c.619C>A (p.Leu207Ile) c.736C>A (p.Leu246Ile) c.244C>A (p.Leu82Ile) c.649C>A (p.Leu217Ile) c.382C>A (p.Leu128Ile) c.379C>A (p.Leu127Ile) n.931C>A n.883C>A | |
| 9 | g.91220943C>A | CA373835280 | AUH | c.705G>T (p.Glu235Asp) c.618G>T (p.Glu206Asp) c.735G>T (p.Glu245Asp) c.243G>T (p.Glu81Asp) c.648G>T (p.Glu216Asp) c.381G>T (p.Glu127Asp) c.378G>T (p.Glu126Asp) n.930G>T n.882G>T | |
| 9 | g.91220943C>G | CA373835281 | AUH | c.705G>C (p.Glu235Asp) c.618G>C (p.Glu206Asp) c.735G>C (p.Glu245Asp) c.243G>C (p.Glu81Asp) c.648G>C (p.Glu216Asp) c.381G>C (p.Glu127Asp) c.378G>C (p.Glu126Asp) n.930G>C n.882G>C | |
| 9 | g.91220943C>T | CA466225871 | AUH | c.705G>A (p.Glu235=) c.618G>A (p.Glu206=) c.735G>A (p.Glu245=) c.243G>A (p.Glu81=) c.648G>A (p.Glu216=) c.381G>A (p.Glu127=) c.378G>A (p.Glu126=) n.930G>A n.882G>A | gnomAD v4 |
| 9 | g.91220944T>A | CA373835282 | AUH | c.704A>T (p.Glu235Val) c.617A>T (p.Glu206Val) c.734A>T (p.Glu245Val) c.242A>T (p.Glu81Val) c.647A>T (p.Glu216Val) c.380A>T (p.Glu127Val) c.377A>T (p.Glu126Val) n.929A>T n.881A>T | |
| 9 | g.91220944T>C | CA373835283 | AUH | c.704A>G (p.Glu235Gly) c.617A>G (p.Glu206Gly) c.734A>G (p.Glu245Gly) c.242A>G (p.Glu81Gly) c.647A>G (p.Glu216Gly) c.380A>G (p.Glu127Gly) c.377A>G (p.Glu126Gly) n.929A>G n.881A>G | |
| 9 | g.91220944T>G | CA373835284 | AUH | c.704A>C (p.Glu235Ala) c.617A>C (p.Glu206Ala) c.734A>C (p.Glu245Ala) c.242A>C (p.Glu81Ala) c.647A>C (p.Glu216Ala) c.380A>C (p.Glu127Ala) c.377A>C (p.Glu126Ala) n.929A>C n.881A>C | |
| 9 | g.91220945C>A | CA373835287 | AUH | c.703G>T (p.Glu235Ter) c.616G>T (p.Glu206Ter) c.733G>T (p.Glu245Ter) c.241G>T (p.Glu81Ter) c.646G>T (p.Glu216Ter) c.379G>T (p.Glu127Ter) c.376G>T (p.Glu126Ter) n.928G>T n.880G>T | |
| 9 | g.91220945C= | CA1863689074 | AUH | c.703G= (p.Glu235=) c.616G= (p.Glu206=) c.733G= (p.Glu245=) c.241G= (p.Glu81=) c.646G= (p.Glu216=) c.379G= (p.Glu127=) c.376G= (p.Glu126=) n.928G= n.880G= | |
| 9 | g.91220945C>G | CA373835286 | AUH | c.703G>C (p.Glu235Gln) c.616G>C (p.Glu206Gln) c.733G>C (p.Glu245Gln) c.241G>C (p.Glu81Gln) c.646G>C (p.Glu216Gln) c.379G>C (p.Glu127Gln) c.376G>C (p.Glu126Gln) n.928G>C n.880G>C | |
| 9 | g.91220945C>T | CA373835285 | AUH | c.703G>A (p.Glu235Lys) c.616G>A (p.Glu206Lys) c.733G>A (p.Glu245Lys) c.241G>A (p.Glu81Lys) c.646G>A (p.Glu216Lys) c.379G>A (p.Glu127Lys) c.376G>A (p.Glu126Lys) n.928G>A n.880G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220946C>A | CA373835288 | AUH | c.702G>T (p.Lys234Asn) c.615G>T (p.Lys205Asn) c.732G>T (p.Lys244Asn) c.240G>T (p.Lys80Asn) c.645G>T (p.Lys215Asn) c.378G>T (p.Lys126Asn) c.375G>T (p.Lys125Asn) n.927G>T n.879G>T | |
| 9 | g.91220946C>G | CA373835289 | AUH | c.702G>C (p.Lys234Asn) c.615G>C (p.Lys205Asn) c.732G>C (p.Lys244Asn) c.240G>C (p.Lys80Asn) c.645G>C (p.Lys215Asn) c.378G>C (p.Lys126Asn) c.375G>C (p.Lys125Asn) n.927G>C n.879G>C | |
| 9 | g.91220946C>T | CA466225881 | AUH | c.702G>A (p.Lys234=) c.615G>A (p.Lys205=) c.732G>A (p.Lys244=) c.240G>A (p.Lys80=) c.645G>A (p.Lys215=) c.378G>A (p.Lys126=) c.375G>A (p.Lys125=) n.927G>A n.879G>A | |
| 9 | g.91220947T>A | CA373835290 | AUH | c.701A>T (p.Lys234Met) c.614A>T (p.Lys205Met) c.731A>T (p.Lys244Met) c.239A>T (p.Lys80Met) c.644A>T (p.Lys215Met) c.377A>T (p.Lys126Met) c.374A>T (p.Lys125Met) n.926A>T n.878A>T | |
| 9 | g.91220947T>C | CA373835291 | AUH | c.701A>G (p.Lys234Arg) c.614A>G (p.Lys205Arg) c.731A>G (p.Lys244Arg) c.239A>G (p.Lys80Arg) c.644A>G (p.Lys215Arg) c.377A>G (p.Lys126Arg) c.374A>G (p.Lys125Arg) n.926A>G n.878A>G | |
| 9 | g.91220947T>G | CA373835292 | AUH | c.701A>C (p.Lys234Thr) c.614A>C (p.Lys205Thr) c.731A>C (p.Lys244Thr) c.239A>C (p.Lys80Thr) c.644A>C (p.Lys215Thr) c.377A>C (p.Lys126Thr) c.374A>C (p.Lys125Thr) n.926A>C n.878A>C | |
| 9 | g.91220948T>A | CA373835293 | AUH | c.700A>T (p.Lys234Ter) c.613A>T (p.Lys205Ter) c.730A>T (p.Lys244Ter) c.238A>T (p.Lys80Ter) c.643A>T (p.Lys215Ter) c.376A>T (p.Lys126Ter) c.373A>T (p.Lys125Ter) n.925A>T n.877A>T | |
| 9 | g.91220948T>C | CA373835294 | AUH | c.700A>G (p.Lys234Glu) c.613A>G (p.Lys205Glu) c.730A>G (p.Lys244Glu) c.238A>G (p.Lys80Glu) c.643A>G (p.Lys215Glu) c.376A>G (p.Lys126Glu) c.373A>G (p.Lys125Glu) n.925A>G n.877A>G | |
| 9 | g.91220948T>G | CA373835295 | AUH | c.700A>C (p.Lys234Gln) c.613A>C (p.Lys205Gln) c.730A>C (p.Lys244Gln) c.238A>C (p.Lys80Gln) c.643A>C (p.Lys215Gln) c.376A>C (p.Lys126Gln) c.373A>C (p.Lys125Gln) n.925A>C n.877A>C | |
| 9 | g.91220949G>A | CA466225888 | AUH | c.699C>T (p.Ala233=) c.612C>T (p.Ala204=) c.729C>T (p.Ala243=) c.237C>T (p.Ala79=) c.642C>T (p.Ala214=) c.375C>T (p.Ala125=) c.372C>T (p.Ala124=) n.924C>T n.876C>T | gnomAD v4 |
| 9 | g.91220949G>C | CA466225891 | AUH | c.699C>G (p.Ala233=) c.612C>G (p.Ala204=) c.729C>G (p.Ala243=) c.237C>G (p.Ala79=) c.642C>G (p.Ala214=) c.375C>G (p.Ala125=) c.372C>G (p.Ala124=) n.924C>G n.876C>G | dbSNP gnomAD v4 |
| 9 | g.91220949G= | CA1863689076 | AUH | c.699C= (p.Ala233=) c.612C= (p.Ala204=) c.729C= (p.Ala243=) c.237C= (p.Ala79=) c.642C= (p.Ala214=) c.375C= (p.Ala125=) c.372C= (p.Ala124=) n.924C= n.876C= | |
| 9 | g.91220949G>T | CA466225890 | AUH | c.699C>A (p.Ala233=) c.612C>A (p.Ala204=) c.729C>A (p.Ala243=) c.237C>A (p.Ala79=) c.642C>A (p.Ala214=) c.375C>A (p.Ala125=) c.372C>A (p.Ala124=) n.924C>A n.876C>A | |
| 9 | g.91220950G>A | CA373835296 | AUH | c.698C>T (p.Ala233Val) c.611C>T (p.Ala204Val) c.728C>T (p.Ala243Val) c.236C>T (p.Ala79Val) c.641C>T (p.Ala214Val) c.374C>T (p.Ala125Val) c.371C>T (p.Ala124Val) n.923C>T n.875C>T | |
| 9 | g.91220950G>C | CA373835297 | AUH | c.698C>G (p.Ala233Gly) c.611C>G (p.Ala204Gly) c.728C>G (p.Ala243Gly) c.236C>G (p.Ala79Gly) c.641C>G (p.Ala214Gly) c.374C>G (p.Ala125Gly) c.371C>G (p.Ala124Gly) n.923C>G n.875C>G | |
| 9 | g.91220950G>T | CA373835298 | AUH | c.698C>A (p.Ala233Asp) c.611C>A (p.Ala204Asp) c.728C>A (p.Ala243Asp) c.236C>A (p.Ala79Asp) c.641C>A (p.Ala214Asp) c.374C>A (p.Ala125Asp) c.371C>A (p.Ala124Asp) n.923C>A n.875C>A | |
| 9 | g.91220951C>A | CA373835301 | AUH | c.697G>T (p.Ala233Ser) c.610G>T (p.Ala204Ser) c.727G>T (p.Ala243Ser) c.235G>T (p.Ala79Ser) c.640G>T (p.Ala214Ser) c.373G>T (p.Ala125Ser) c.370G>T (p.Ala124Ser) n.922G>T n.874G>T | |
| 9 | g.91220951C>G | CA373835300 | AUH | c.697G>C (p.Ala233Pro) c.610G>C (p.Ala204Pro) c.727G>C (p.Ala243Pro) c.235G>C (p.Ala79Pro) c.640G>C (p.Ala214Pro) c.373G>C (p.Ala125Pro) c.370G>C (p.Ala124Pro) n.922G>C n.874G>C | |
| 9 | g.91220951C>T | CA373835299 | AUH | c.697G>A (p.Ala233Thr) c.610G>A (p.Ala204Thr) c.727G>A (p.Ala243Thr) c.235G>A (p.Ala79Thr) c.640G>A (p.Ala214Thr) c.373G>A (p.Ala125Thr) c.370G>A (p.Ala124Thr) n.922G>A n.874G>A | |
| 9 | g.91220952C>A | CA466225899 | AUH | c.696G>T (p.Leu232=) c.609G>T (p.Leu203=) c.726G>T (p.Leu242=) c.234G>T (p.Leu78=) c.639G>T (p.Leu213=) c.372G>T (p.Leu124=) c.369G>T (p.Leu123=) n.921G>T n.873G>T | |
| 9 | g.91220952C>G | CA466225903 | AUH | c.696G>C (p.Leu232=) c.609G>C (p.Leu203=) c.726G>C (p.Leu242=) c.234G>C (p.Leu78=) c.639G>C (p.Leu213=) c.372G>C (p.Leu124=) c.369G>C (p.Leu123=) n.921G>C n.873G>C | |
| 9 | g.91220952C>T | CA466225901 | AUH | c.696G>A (p.Leu232=) c.609G>A (p.Leu203=) c.726G>A (p.Leu242=) c.234G>A (p.Leu78=) c.639G>A (p.Leu213=) c.372G>A (p.Leu124=) c.369G>A (p.Leu123=) n.921G>A n.873G>A | |
| 9 | g.91220953A>C | CA373835302 | AUH | c.695T>G (p.Leu232Arg) c.608T>G (p.Leu203Arg) c.725T>G (p.Leu242Arg) c.233T>G (p.Leu78Arg) c.638T>G (p.Leu213Arg) c.371T>G (p.Leu124Arg) c.368T>G (p.Leu123Arg) n.920T>G n.872T>G | |
| 9 | g.91220953A>G | CA373835303 | AUH | c.695T>C (p.Leu232Pro) c.608T>C (p.Leu203Pro) c.725T>C (p.Leu242Pro) c.233T>C (p.Leu78Pro) c.638T>C (p.Leu213Pro) c.371T>C (p.Leu124Pro) c.368T>C (p.Leu123Pro) n.920T>C n.872T>C | |
| 9 | g.91220953A>T | CA373835304 | AUH | c.695T>A (p.Leu232Gln) c.608T>A (p.Leu203Gln) c.725T>A (p.Leu242Gln) c.233T>A (p.Leu78Gln) c.638T>A (p.Leu213Gln) c.371T>A (p.Leu124Gln) c.368T>A (p.Leu123Gln) n.920T>A n.872T>A | |
| 9 | g.91220954G>A | CA466225907 | AUH | c.694C>T (p.Leu232=) c.607C>T (p.Leu203=) c.724C>T (p.Leu242=) c.232C>T (p.Leu78=) c.637C>T (p.Leu213=) c.370C>T (p.Leu124=) c.367C>T (p.Leu123=) n.919C>T n.871C>T | |
| 9 | g.91220954G>C | CA373835305 | AUH | c.694C>G (p.Leu232Val) c.607C>G (p.Leu203Val) c.724C>G (p.Leu242Val) c.232C>G (p.Leu78Val) c.637C>G (p.Leu213Val) c.370C>G (p.Leu124Val) c.367C>G (p.Leu123Val) n.919C>G n.871C>G | |
| 9 | g.91220954G>T | CA373835306 | AUH | c.694C>A (p.Leu232Met) c.607C>A (p.Leu203Met) c.724C>A (p.Leu242Met) c.232C>A (p.Leu78Met) c.637C>A (p.Leu213Met) c.370C>A (p.Leu124Met) c.367C>A (p.Leu123Met) n.919C>A n.871C>A | |
| 9 | g.91220955G>A | CA5119753 | AUH | c.693C>T (p.Ser231=) c.606C>T (p.Ser202=) c.723C>T (p.Ser241=) c.231C>T (p.Ser77=) c.636C>T (p.Ser212=) c.369C>T (p.Ser123=) c.366C>T (p.Ser122=) n.918C>T n.870C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220955G>C | CA466225911 | AUH | c.693C>G (p.Ser231=) c.606C>G (p.Ser202=) c.723C>G (p.Ser241=) c.231C>G (p.Ser77=) c.636C>G (p.Ser212=) c.369C>G (p.Ser123=) c.366C>G (p.Ser122=) n.918C>G n.870C>G | |
| 9 | g.91220955G= | CA1863689080 | AUH | c.693C= (p.Ser231=) c.606C= (p.Ser202=) c.723C= (p.Ser241=) c.231C= (p.Ser77=) c.636C= (p.Ser212=) c.369C= (p.Ser123=) c.366C= (p.Ser122=) n.918C= n.870C= | |
| 9 | g.91220955G>T | CA466225913 | AUH | c.693C>A (p.Ser231=) c.606C>A (p.Ser202=) c.723C>A (p.Ser241=) c.231C>A (p.Ser77=) c.636C>A (p.Ser212=) c.369C>A (p.Ser123=) c.366C>A (p.Ser122=) n.918C>A n.870C>A | |
| 9 | g.91220956G>A | CA373835307 | AUH | c.692C>T (p.Ser231Phe) c.605C>T (p.Ser202Phe) c.722C>T (p.Ser241Phe) c.230C>T (p.Ser77Phe) c.635C>T (p.Ser212Phe) c.368C>T (p.Ser123Phe) c.365C>T (p.Ser122Phe) n.917C>T n.869C>T | |
| 9 | g.91220956G>C | CA373835308 | AUH | c.692C>G (p.Ser231Cys) c.605C>G (p.Ser202Cys) c.722C>G (p.Ser241Cys) c.230C>G (p.Ser77Cys) c.635C>G (p.Ser212Cys) c.368C>G (p.Ser123Cys) c.365C>G (p.Ser122Cys) n.917C>G n.869C>G | |
| 9 | g.91220956G>T | CA373835309 | AUH | c.692C>A (p.Ser231Tyr) c.605C>A (p.Ser202Tyr) c.722C>A (p.Ser241Tyr) c.230C>A (p.Ser77Tyr) c.635C>A (p.Ser212Tyr) c.368C>A (p.Ser123Tyr) c.365C>A (p.Ser122Tyr) n.917C>A n.869C>A | |
| 9 | g.91220957A>C | CA373835310 | AUH | c.691T>G (p.Ser231Ala) c.604T>G (p.Ser202Ala) c.721T>G (p.Ser241Ala) c.229T>G (p.Ser77Ala) c.634T>G (p.Ser212Ala) c.367T>G (p.Ser123Ala) c.364T>G (p.Ser122Ala) n.916T>G n.868T>G | |
| 9 | g.91220957A>G | CA373835311 | AUH | c.691T>C (p.Ser231Pro) c.604T>C (p.Ser202Pro) c.721T>C (p.Ser241Pro) c.229T>C (p.Ser77Pro) c.634T>C (p.Ser212Pro) c.367T>C (p.Ser123Pro) c.364T>C (p.Ser122Pro) n.916T>C n.868T>C | |
| 9 | g.91220957A>T | CA373835312 | AUH | c.691T>A (p.Ser231Thr) c.604T>A (p.Ser202Thr) c.721T>A (p.Ser241Thr) c.229T>A (p.Ser77Thr) c.634T>A (p.Ser212Thr) c.367T>A (p.Ser123Thr) c.364T>A (p.Ser122Thr) n.916T>A n.868T>A | |
| 9 | g.91220958C>A | CA373835315 | AUH | c.690G>T (p.Met230Ile) c.603G>T (p.Met201Ile) c.720G>T (p.Met240Ile) c.228G>T (p.Met76Ile) c.633G>T (p.Met211Ile) c.366G>T (p.Met122Ile) c.363G>T (p.Met121Ile) n.915G>T n.867G>T | |
| 9 | g.91220958C= | CA1863689083 | AUH | c.690G= (p.Met230=) c.603G= (p.Met201=) c.720G= (p.Met240=) c.228G= (p.Met76=) c.633G= (p.Met211=) c.366G= (p.Met122=) c.363G= (p.Met121=) n.915G= n.867G= | |
| 9 | g.91220958C>G | CA373835313 | AUH | c.690G>C (p.Met230Ile) c.603G>C (p.Met201Ile) c.720G>C (p.Met240Ile) c.228G>C (p.Met76Ile) c.633G>C (p.Met211Ile) c.366G>C (p.Met122Ile) c.363G>C (p.Met121Ile) n.915G>C n.867G>C | dbSNP gnomAD v2 |
| 9 | g.91220958C>T | CA373835314 | AUH | c.690G>A (p.Met230Ile) c.603G>A (p.Met201Ile) c.720G>A (p.Met240Ile) c.228G>A (p.Met76Ile) c.633G>A (p.Met211Ile) c.366G>A (p.Met122Ile) c.363G>A (p.Met121Ile) n.915G>A n.867G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220959A= | CA1863689086 | AUH | c.689T= (p.Met230=) c.602T= (p.Met201=) c.719T= (p.Met240=) c.227T= (p.Met76=) c.632T= (p.Met211=) c.365T= (p.Met122=) c.362T= (p.Met121=) n.914T= n.866T= | |
| 9 | g.91220959A>C | CA373835316 | AUH | c.689T>G (p.Met230Arg) c.602T>G (p.Met201Arg) c.719T>G (p.Met240Arg) c.227T>G (p.Met76Arg) c.632T>G (p.Met211Arg) c.365T>G (p.Met122Arg) c.362T>G (p.Met121Arg) n.914T>G n.866T>G | |
| 9 | g.91220959A>G | CA5119754 | AUH | c.689T>C (p.Met230Thr) c.602T>C (p.Met201Thr) c.719T>C (p.Met240Thr) c.227T>C (p.Met76Thr) c.632T>C (p.Met211Thr) c.365T>C (p.Met122Thr) c.362T>C (p.Met121Thr) n.914T>C n.866T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220959A>T | CA373835317 | AUH | c.689T>A (p.Met230Lys) c.602T>A (p.Met201Lys) c.719T>A (p.Met240Lys) c.227T>A (p.Met76Lys) c.632T>A (p.Met211Lys) c.365T>A (p.Met122Lys) c.362T>A (p.Met121Lys) n.914T>A n.866T>A | |
| 9 | g.91220960T>A | CA373835318 | AUH | c.688A>T (p.Met230Leu) c.601A>T (p.Met201Leu) c.718A>T (p.Met240Leu) c.226A>T (p.Met76Leu) c.631A>T (p.Met211Leu) c.364A>T (p.Met122Leu) c.361A>T (p.Met121Leu) n.913A>T n.865A>T | |
| 9 | g.91220960T>C | CA373835319 | AUH | c.688A>G (p.Met230Val) c.601A>G (p.Met201Val) c.718A>G (p.Met240Val) c.226A>G (p.Met76Val) c.631A>G (p.Met211Val) c.364A>G (p.Met122Val) c.361A>G (p.Met121Val) n.913A>G n.865A>G | |
| 9 | g.91220960T>G | CA373835320 | AUH | c.688A>C (p.Met230Leu) c.601A>C (p.Met201Leu) c.718A>C (p.Met240Leu) c.226A>C (p.Met76Leu) c.631A>C (p.Met211Leu) c.364A>C (p.Met122Leu) c.361A>C (p.Met121Leu) n.913A>C n.865A>C | |
| 9 | g.91220961T>A | CA466225927 | AUH | c.687A>T (p.Gly229=) c.600A>T (p.Gly200=) c.717A>T (p.Gly239=) c.225A>T (p.Gly75=) c.630A>T (p.Gly210=) c.363A>T (p.Gly121=) c.360A>T (p.Gly120=) n.912A>T n.864A>T | |
| 9 | g.91220961T>C | CA466225928 | AUH | c.687A>G (p.Gly229=) c.600A>G (p.Gly200=) c.717A>G (p.Gly239=) c.225A>G (p.Gly75=) c.630A>G (p.Gly210=) c.363A>G (p.Gly121=) c.360A>G (p.Gly120=) n.912A>G n.864A>G | |
| 9 | g.91220961T>G | CA466225926 | AUH | c.687A>C (p.Gly229=) c.600A>C (p.Gly200=) c.717A>C (p.Gly239=) c.225A>C (p.Gly75=) c.630A>C (p.Gly210=) c.363A>C (p.Gly121=) c.360A>C (p.Gly120=) n.912A>C n.864A>C | |
| 9 | g.91220962C>A | CA373835321 | AUH | c.686G>T (p.Gly229Val) c.599G>T (p.Gly200Val) c.716G>T (p.Gly239Val) c.224G>T (p.Gly75Val) c.629G>T (p.Gly210Val) c.362G>T (p.Gly121Val) c.359G>T (p.Gly120Val) n.911G>T n.863G>T | |
| 9 | g.91220962C= | CA1863689088 | AUH | c.686G= (p.Gly229=) c.599G= (p.Gly200=) c.716G= (p.Gly239=) c.224G= (p.Gly75=) c.629G= (p.Gly210=) c.362G= (p.Gly121=) c.359G= (p.Gly120=) n.911G= n.863G= | |
| 9 | g.91220962C>G | CA373835322 | AUH | c.686G>C (p.Gly229Ala) c.599G>C (p.Gly200Ala) c.716G>C (p.Gly239Ala) c.224G>C (p.Gly75Ala) c.629G>C (p.Gly210Ala) c.362G>C (p.Gly121Ala) c.359G>C (p.Gly120Ala) n.911G>C n.863G>C | gnomAD v4 |
| 9 | g.91220962C>T | CA373835323 | AUH | c.686G>A (p.Gly229Glu) c.599G>A (p.Gly200Glu) c.716G>A (p.Gly239Glu) c.224G>A (p.Gly75Glu) c.629G>A (p.Gly210Glu) c.362G>A (p.Gly121Glu) c.359G>A (p.Gly120Glu) n.911G>A n.863G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220963C>A | CA373835324 | AUH | c.685G>T (p.Gly229Ter) c.598G>T (p.Gly200Ter) c.715G>T (p.Gly239Ter) c.223G>T (p.Gly75Ter) c.628G>T (p.Gly210Ter) c.361G>T (p.Gly121Ter) c.358G>T (p.Gly120Ter) n.910G>T n.862G>T | gnomAD v4 |
| 9 | g.91220963C>G | CA373835325 | AUH | c.685G>C (p.Gly229Arg) c.598G>C (p.Gly200Arg) c.715G>C (p.Gly239Arg) c.223G>C (p.Gly75Arg) c.628G>C (p.Gly210Arg) c.361G>C (p.Gly121Arg) c.358G>C (p.Gly120Arg) n.910G>C n.862G>C | |
| 9 | g.91220963C>T | CA373835326 | AUH | c.685G>A (p.Gly229Arg) c.598G>A (p.Gly200Arg) c.715G>A (p.Gly239Arg) c.223G>A (p.Gly75Arg) c.628G>A (p.Gly210Arg) c.361G>A (p.Gly121Arg) c.358G>A (p.Gly120Arg) n.910G>A n.862G>A | |
| 9 | g.91220964A>C | CA373835327 | AUH | c.684T>G (p.Ile228Met) c.597T>G (p.Ile199Met) c.714T>G (p.Ile238Met) c.222T>G (p.Ile74Met) c.627T>G (p.Ile209Met) c.360T>G (p.Ile120Met) c.357T>G (p.Ile119Met) n.909T>G n.861T>G | |
| 9 | g.91220964A>G | CA466225933 | AUH | c.684T>C (p.Ile228=) c.597T>C (p.Ile199=) c.714T>C (p.Ile238=) c.222T>C (p.Ile74=) c.627T>C (p.Ile209=) c.360T>C (p.Ile120=) c.357T>C (p.Ile119=) n.909T>C n.861T>C | |
| 9 | g.91220964A>T | CA466225935 | AUH | c.684T>A (p.Ile228=) c.597T>A (p.Ile199=) c.714T>A (p.Ile238=) c.222T>A (p.Ile74=) c.627T>A (p.Ile209=) c.360T>A (p.Ile120=) c.357T>A (p.Ile119=) n.909T>A n.861T>A | |
| 9 | g.91220965A= | CA1863689090 | AUH | c.683T= (p.Ile228=) c.596T= (p.Ile199=) c.713T= (p.Ile238=) c.221T= (p.Ile74=) c.626T= (p.Ile209=) c.359T= (p.Ile120=) c.356T= (p.Ile119=) n.908T= n.860T= | |
| 9 | g.91220965A>C | CA373835329 | AUH | c.683T>G (p.Ile228Ser) c.596T>G (p.Ile199Ser) c.713T>G (p.Ile238Ser) c.221T>G (p.Ile74Ser) c.626T>G (p.Ile209Ser) c.359T>G (p.Ile120Ser) c.356T>G (p.Ile119Ser) n.908T>G n.860T>G | |
| 9 | g.91220965A>G | CA373835328 | AUH | c.683T>C (p.Ile228Thr) c.596T>C (p.Ile199Thr) c.713T>C (p.Ile238Thr) c.221T>C (p.Ile74Thr) c.626T>C (p.Ile209Thr) c.359T>C (p.Ile120Thr) c.356T>C (p.Ile119Thr) n.908T>C n.860T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220965A>T | CA373835330 | AUH | c.683T>A (p.Ile228Asn) c.596T>A (p.Ile199Asn) c.713T>A (p.Ile238Asn) c.221T>A (p.Ile74Asn) c.626T>A (p.Ile209Asn) c.359T>A (p.Ile120Asn) c.356T>A (p.Ile119Asn) n.908T>A n.860T>A | |
| 9 | g.91220966T>A | CA373835331 | AUH | c.682A>T (p.Ile228Phe) c.595A>T (p.Ile199Phe) c.712A>T (p.Ile238Phe) c.220A>T (p.Ile74Phe) c.625A>T (p.Ile209Phe) c.358A>T (p.Ile120Phe) c.355A>T (p.Ile119Phe) n.907A>T n.859A>T | |
| 9 | g.91220966T>C | CA373835332 | AUH | c.682A>G (p.Ile228Val) c.595A>G (p.Ile199Val) c.712A>G (p.Ile238Val) c.220A>G (p.Ile74Val) c.625A>G (p.Ile209Val) c.358A>G (p.Ile120Val) c.355A>G (p.Ile119Val) n.907A>G n.859A>G | gnomAD v4 |
| 9 | g.91220966T>G | CA373835333 | AUH | c.682A>C (p.Ile228Leu) c.595A>C (p.Ile199Leu) c.712A>C (p.Ile238Leu) c.220A>C (p.Ile74Leu) c.625A>C (p.Ile209Leu) c.358A>C (p.Ile120Leu) c.355A>C (p.Ile119Leu) n.907A>C n.859A>C | |
| 9 | g.91220967G>A | CA466225942 | AUH | c.681C>T (p.Ala227=) c.594C>T (p.Ala198=) c.711C>T (p.Ala237=) c.219C>T (p.Ala73=) c.624C>T (p.Ala208=) c.357C>T (p.Ala119=) c.354C>T (p.Ala118=) n.906C>T n.858C>T | |
| 9 | g.91220967G>C | CA466225944 | AUH | c.681C>G (p.Ala227=) c.594C>G (p.Ala198=) c.711C>G (p.Ala237=) c.219C>G (p.Ala73=) c.624C>G (p.Ala208=) c.357C>G (p.Ala119=) c.354C>G (p.Ala118=) n.906C>G n.858C>G | |
| 9 | g.91220967G>T | CA466225946 | AUH | c.681C>A (p.Ala227=) c.594C>A (p.Ala198=) c.711C>A (p.Ala237=) c.219C>A (p.Ala73=) c.624C>A (p.Ala208=) c.357C>A (p.Ala119=) c.354C>A (p.Ala118=) n.906C>A n.858C>A | |
| 9 | g.91220968G>A | CA5119755 | AUH | c.680C>T (p.Ala227Val) c.593C>T (p.Ala198Val) c.710C>T (p.Ala237Val) c.218C>T (p.Ala73Val) c.623C>T (p.Ala208Val) c.356C>T (p.Ala119Val) c.353C>T (p.Ala118Val) n.905C>T n.857C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.91220968G>C | CA373835334 | AUH | c.680C>G (p.Ala227Gly) c.593C>G (p.Ala198Gly) c.710C>G (p.Ala237Gly) c.218C>G (p.Ala73Gly) c.623C>G (p.Ala208Gly) c.356C>G (p.Ala119Gly) c.353C>G (p.Ala118Gly) n.905C>G n.857C>G | |
| 9 | g.91220968G= | CA1863689092 | AUH | c.680C= (p.Ala227=) c.593C= (p.Ala198=) c.710C= (p.Ala237=) c.218C= (p.Ala73=) c.623C= (p.Ala208=) c.356C= (p.Ala119=) c.353C= (p.Ala118=) n.905C= n.857C= | |
| 9 | g.91220968G>T | CA373835335 | AUH | c.680C>A (p.Ala227Asp) c.593C>A (p.Ala198Asp) c.710C>A (p.Ala237Asp) c.218C>A (p.Ala73Asp) c.623C>A (p.Ala208Asp) c.356C>A (p.Ala119Asp) c.353C>A (p.Ala118Asp) n.905C>A n.857C>A | |
| 9 | g.91220969C>A | CA373835336 | AUH | c.679G>T (p.Ala227Ser) c.592G>T (p.Ala198Ser) c.709G>T (p.Ala237Ser) c.217G>T (p.Ala73Ser) c.622G>T (p.Ala208Ser) c.355G>T (p.Ala119Ser) c.352G>T (p.Ala118Ser) n.904G>T n.856G>T | |
| 9 | g.91220969C= | CA1863689097 | AUH | c.679G= (p.Ala227=) c.592G= (p.Ala198=) c.709G= (p.Ala237=) c.217G= (p.Ala73=) c.622G= (p.Ala208=) c.355G= (p.Ala119=) c.352G= (p.Ala118=) n.904G= n.856G= | |
| 9 | g.91220969C>G | CA373835337 | AUH | c.679G>C (p.Ala227Pro) c.592G>C (p.Ala198Pro) c.709G>C (p.Ala237Pro) c.217G>C (p.Ala73Pro) c.622G>C (p.Ala208Pro) c.355G>C (p.Ala119Pro) c.352G>C (p.Ala118Pro) n.904G>C n.856G>C | dbSNP |
| 9 | g.91220969C>T | CA5119756 | AUH | c.679G>A (p.Ala227Thr) c.592G>A (p.Ala198Thr) c.709G>A (p.Ala237Thr) c.217G>A (p.Ala73Thr) c.622G>A (p.Ala208Thr) c.355G>A (p.Ala119Thr) c.352G>A (p.Ala118Thr) n.904G>A n.856G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220970G>A | CA289610 | AUH | c.678C>T (p.Arg226=) c.591C>T (p.Arg197=) c.708C>T (p.Arg236=) c.216C>T (p.Arg72=) c.621C>T (p.Arg207=) c.354C>T (p.Arg118=) c.351C>T (p.Arg117=) n.903C>T n.855C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91220970G>C | CA466225956 | AUH | c.678C>G (p.Arg226=) c.591C>G (p.Arg197=) c.708C>G (p.Arg236=) c.216C>G (p.Arg72=) c.621C>G (p.Arg207=) c.354C>G (p.Arg118=) c.351C>G (p.Arg117=) n.903C>G n.855C>G | |
| 9 | g.91220970G= | CA1863689103 | AUH | c.678C= (p.Arg226=) c.591C= (p.Arg197=) c.708C= (p.Arg236=) c.216C= (p.Arg72=) c.621C= (p.Arg207=) c.354C= (p.Arg118=) c.351C= (p.Arg117=) n.903C= n.855C= | |
| 9 | g.91220970G>T | CA466225958 | AUH | c.678C>A (p.Arg226=) c.591C>A (p.Arg197=) c.708C>A (p.Arg236=) c.216C>A (p.Arg72=) c.621C>A (p.Arg207=) c.354C>A (p.Arg118=) c.351C>A (p.Arg117=) n.903C>A n.855C>A | dbSNP gnomAD v2 COSMIC |
| 9 | g.91220971C>A | CA373835338 | AUH | c.677G>T (p.Arg226Leu) c.590G>T (p.Arg197Leu) c.707G>T (p.Arg236Leu) c.215G>T (p.Arg72Leu) c.620G>T (p.Arg207Leu) c.353G>T (p.Arg118Leu) c.350G>T (p.Arg117Leu) n.902G>T n.854G>T | dbSNP |
| 9 | g.91220971C= | CA1863689110 | AUH | c.677G= (p.Arg226=) c.590G= (p.Arg197=) c.707G= (p.Arg236=) c.215G= (p.Arg72=) c.620G= (p.Arg207=) c.353G= (p.Arg118=) c.350G= (p.Arg117=) n.902G= n.854G= | |
| 9 | g.91220971C>G | CA373835339 | AUH | c.677G>C (p.Arg226Pro) c.590G>C (p.Arg197Pro) c.707G>C (p.Arg236Pro) c.215G>C (p.Arg72Pro) c.620G>C (p.Arg207Pro) c.353G>C (p.Arg118Pro) c.350G>C (p.Arg117Pro) n.902G>C n.854G>C | |
| 9 | g.91220971C>T | CA5119757 | AUH | c.677G>A (p.Arg226His) c.590G>A (p.Arg197His) c.707G>A (p.Arg236His) c.215G>A (p.Arg72His) c.620G>A (p.Arg207His) c.353G>A (p.Arg118His) c.350G>A (p.Arg117His) n.902G>A n.854G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220972G>A | CA324469 | AUH | c.676C>T (p.Arg226Cys) c.589C>T (p.Arg197Cys) c.706C>T (p.Arg236Cys) c.214C>T (p.Arg72Cys) c.619C>T (p.Arg207Cys) c.352C>T (p.Arg118Cys) c.349C>T (p.Arg117Cys) n.901C>T n.853C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220972G>C | CA373835341 | AUH | c.676C>G (p.Arg226Gly) c.589C>G (p.Arg197Gly) c.706C>G (p.Arg236Gly) c.214C>G (p.Arg72Gly) c.619C>G (p.Arg207Gly) c.352C>G (p.Arg118Gly) c.349C>G (p.Arg117Gly) n.901C>G n.853C>G | COSMIC |
| 9 | g.91220972G= | CA1863689118 | AUH | c.676C= (p.Arg226=) c.589C= (p.Arg197=) c.706C= (p.Arg236=) c.214C= (p.Arg72=) c.619C= (p.Arg207=) c.352C= (p.Arg118=) c.349C= (p.Arg117=) n.901C= n.853C= | |
| 9 | g.91220972G>T | CA373835340 | AUH | c.676C>A (p.Arg226Ser) c.589C>A (p.Arg197Ser) c.706C>A (p.Arg236Ser) c.214C>A (p.Arg72Ser) c.619C>A (p.Arg207Ser) c.352C>A (p.Arg118Ser) c.349C>A (p.Arg117Ser) n.901C>A n.853C>A | |
| 9 | g.91220973T>A | CA466225965 | AUH | c.675A>T (p.Pro225=) c.588A>T (p.Pro196=) c.705A>T (p.Pro235=) c.213A>T (p.Pro71=) c.618A>T (p.Pro206=) c.351A>T (p.Pro117=) c.348A>T (p.Pro116=) n.900A>T n.852A>T | |
| 9 | g.91220973T>C | CA466225967 | AUH | c.675A>G (p.Pro225=) c.588A>G (p.Pro196=) c.705A>G (p.Pro235=) c.213A>G (p.Pro71=) c.618A>G (p.Pro206=) c.351A>G (p.Pro117=) c.348A>G (p.Pro116=) n.900A>G n.852A>G | |
| 9 | g.91220973T>G | CA466225969 | AUH | c.675A>C (p.Pro225=) c.588A>C (p.Pro196=) c.705A>C (p.Pro235=) c.213A>C (p.Pro71=) c.618A>C (p.Pro206=) c.351A>C (p.Pro117=) c.348A>C (p.Pro116=) n.900A>C n.852A>C | |
| 9 | g.91220974G>A | CA373835342 | AUH | c.674C>T (p.Pro225Leu) c.587C>T (p.Pro196Leu) c.704C>T (p.Pro235Leu) c.212C>T (p.Pro71Leu) c.617C>T (p.Pro206Leu) c.350C>T (p.Pro117Leu) c.347C>T (p.Pro116Leu) n.899C>T n.851C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220974G>C | CA373835343 | AUH | c.674C>G (p.Pro225Arg) c.587C>G (p.Pro196Arg) c.704C>G (p.Pro235Arg) c.212C>G (p.Pro71Arg) c.617C>G (p.Pro206Arg) c.350C>G (p.Pro117Arg) c.347C>G (p.Pro116Arg) n.899C>G n.851C>G | |
| 9 | g.91220974G= | CA1863689122 | AUH | c.674C= (p.Pro225=) c.587C= (p.Pro196=) c.704C= (p.Pro235=) c.212C= (p.Pro71=) c.617C= (p.Pro206=) c.350C= (p.Pro117=) c.347C= (p.Pro116=) n.899C= n.851C= | |
| 9 | g.91220974G>T | CA373835344 | AUH | c.674C>A (p.Pro225Gln) c.587C>A (p.Pro196Gln) c.704C>A (p.Pro235Gln) c.212C>A (p.Pro71Gln) c.617C>A (p.Pro206Gln) c.350C>A (p.Pro117Gln) c.347C>A (p.Pro116Gln) n.899C>A n.851C>A | |
| 9 | g.91220975G>A | CA373835345 | AUH | c.673C>T (p.Pro225Ser) c.586C>T (p.Pro196Ser) c.703C>T (p.Pro235Ser) c.211C>T (p.Pro71Ser) c.616C>T (p.Pro206Ser) c.349C>T (p.Pro117Ser) c.346C>T (p.Pro116Ser) n.898C>T n.850C>T | |
| 9 | g.91220975G>C | CA373835346 | AUH | c.673C>G (p.Pro225Ala) c.586C>G (p.Pro196Ala) c.703C>G (p.Pro235Ala) c.211C>G (p.Pro71Ala) c.616C>G (p.Pro206Ala) c.349C>G (p.Pro117Ala) c.346C>G (p.Pro116Ala) n.898C>G n.850C>G | |
| 9 | g.91220975G>T | CA373835347 | AUH | c.673C>A (p.Pro225Thr) c.586C>A (p.Pro196Thr) c.703C>A (p.Pro235Thr) c.211C>A (p.Pro71Thr) c.616C>A (p.Pro206Thr) c.349C>A (p.Pro117Thr) c.346C>A (p.Pro116Thr) n.898C>A n.850C>A | |
| 9 | g.91220976C>A | CA373835348 | AUH | c.672G>T (p.Leu224Phe) c.585G>T (p.Leu195Phe) c.702G>T (p.Leu234Phe) c.210G>T (p.Leu70Phe) c.615G>T (p.Leu205Phe) c.348G>T (p.Leu116Phe) c.345G>T (p.Leu115Phe) n.897G>T n.849G>T | |
| 9 | g.91220976C>G | CA373835349 | AUH | c.672G>C (p.Leu224Phe) c.585G>C (p.Leu195Phe) c.702G>C (p.Leu234Phe) c.210G>C (p.Leu70Phe) c.615G>C (p.Leu205Phe) c.348G>C (p.Leu116Phe) c.345G>C (p.Leu115Phe) n.897G>C n.849G>C | |
| 9 | g.91220976C>T | CA466225977 | AUH | c.672G>A (p.Leu224=) c.585G>A (p.Leu195=) c.702G>A (p.Leu234=) c.210G>A (p.Leu70=) c.615G>A (p.Leu205=) c.348G>A (p.Leu116=) c.345G>A (p.Leu115=) n.897G>A n.849G>A | gnomAD v4 |
| 9 | g.91220977A>C | CA373835350 | AUH | c.671T>G (p.Leu224Trp) c.584T>G (p.Leu195Trp) c.701T>G (p.Leu234Trp) c.209T>G (p.Leu70Trp) c.614T>G (p.Leu205Trp) c.347T>G (p.Leu116Trp) c.344T>G (p.Leu115Trp) n.896T>G n.848T>G | |
| 9 | g.91220977A>G | CA373835351 | AUH | c.671T>C (p.Leu224Ser) c.584T>C (p.Leu195Ser) c.701T>C (p.Leu234Ser) c.209T>C (p.Leu70Ser) c.614T>C (p.Leu205Ser) c.347T>C (p.Leu116Ser) c.344T>C (p.Leu115Ser) n.896T>C n.848T>C | |
| 9 | g.91220977A>T | CA373835352 | AUH | c.671T>A (p.Leu224Ter) c.584T>A (p.Leu195Ter) c.701T>A (p.Leu234Ter) c.209T>A (p.Leu70Ter) c.614T>A (p.Leu205Ter) c.347T>A (p.Leu116Ter) c.344T>A (p.Leu115Ter) n.896T>A n.848T>A | |
| 9 | g.91220978dup | CA2579377716 | AUH | c.671dup (p.Leu224PhefsTer?) c.584dup (p.Leu195PhefsTer?) c.701dup (p.Leu234PhefsTer?) c.209dup (p.Leu70PhefsTer?) c.614dup (p.Leu205PhefsTer?) c.347dup (p.Leu116PhefsTer?) c.344dup (p.Leu115PhefsTer?) n.896dup n.848dup | gnomAD v4 |
| 9 | g.91220978A>C | CA373835354 | AUH | c.670T>G (p.Leu224Val) c.583T>G (p.Leu195Val) c.700T>G (p.Leu234Val) c.208T>G (p.Leu70Val) c.613T>G (p.Leu205Val) c.346T>G (p.Leu116Val) c.343T>G (p.Leu115Val) n.895T>G n.847T>G | |
| 9 | g.91220978A>G | CA466225981 | AUH | c.670T>C (p.Leu224=) c.583T>C (p.Leu195=) c.700T>C (p.Leu234=) c.208T>C (p.Leu70=) c.613T>C (p.Leu205=) c.346T>C (p.Leu116=) c.343T>C (p.Leu115=) n.895T>C n.847T>C | |
| 9 | g.91220978A>T | CA373835353 | AUH | c.670T>A (p.Leu224Met) c.583T>A (p.Leu195Met) c.700T>A (p.Leu234Met) c.208T>A (p.Leu70Met) c.613T>A (p.Leu205Met) c.346T>A (p.Leu116Met) c.343T>A (p.Leu115Met) n.895T>A n.847T>A | |
| 9 | g.91220979T>A | CA466225985 | AUH | c.669A>T (p.Arg223=) c.582A>T (p.Arg194=) c.699A>T (p.Arg233=) c.207A>T (p.Arg69=) c.612A>T (p.Arg204=) c.345A>T (p.Arg115=) c.342A>T (p.Arg114=) n.894A>T n.846A>T | |
| 9 | g.91220979T>C | CA466225987 | AUH | c.669A>G (p.Arg223=) c.582A>G (p.Arg194=) c.699A>G (p.Arg233=) c.207A>G (p.Arg69=) c.612A>G (p.Arg204=) c.345A>G (p.Arg115=) c.342A>G (p.Arg114=) n.894A>G n.846A>G | |
| 9 | g.91220979T>G | CA466226119 | AUH | c.669A>C (p.Arg223=) c.582A>C (p.Arg194=) c.699A>C (p.Arg233=) c.207A>C (p.Arg69=) c.612A>C (p.Arg204=) c.345A>C (p.Arg115=) c.342A>C (p.Arg114=) n.894A>C n.846A>C | |
| 9 | g.91220980C>A | CA373835355 | AUH | c.668G>T (p.Arg223Leu) c.581G>T (p.Arg194Leu) c.698G>T (p.Arg233Leu) c.206G>T (p.Arg69Leu) c.611G>T (p.Arg204Leu) c.344G>T (p.Arg115Leu) c.341G>T (p.Arg114Leu) n.893G>T n.845G>T | gnomAD v4 |
| 9 | g.91220980C= | CA1863689124 | AUH | c.668G= (p.Arg223=) c.581G= (p.Arg194=) c.698G= (p.Arg233=) c.206G= (p.Arg69=) c.611G= (p.Arg204=) c.344G= (p.Arg115=) c.341G= (p.Arg114=) n.893G= n.845G= | |
| 9 | g.91220980C>G | CA373835356 | AUH | c.668G>C (p.Arg223Pro) c.581G>C (p.Arg194Pro) c.698G>C (p.Arg233Pro) c.206G>C (p.Arg69Pro) c.611G>C (p.Arg204Pro) c.344G>C (p.Arg115Pro) c.341G>C (p.Arg114Pro) n.893G>C n.845G>C | |
| 9 | g.91220980C>T | CA5119758 | AUH | c.668G>A (p.Arg223Gln) c.581G>A (p.Arg194Gln) c.698G>A (p.Arg233Gln) c.206G>A (p.Arg69Gln) c.611G>A (p.Arg204Gln) c.344G>A (p.Arg115Gln) c.341G>A (p.Arg114Gln) n.893G>A n.845G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220981G>A | CA373835357 | AUH | c.667C>T (p.Arg223Ter) c.580C>T (p.Arg194Ter) c.697C>T (p.Arg233Ter) c.205C>T (p.Arg69Ter) c.610C>T (p.Arg204Ter) c.343C>T (p.Arg115Ter) c.340C>T (p.Arg114Ter) n.892C>T n.844C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220981G>C | CA373835358 | AUH | c.667C>G (p.Arg223Gly) c.580C>G (p.Arg194Gly) c.697C>G (p.Arg233Gly) c.205C>G (p.Arg69Gly) c.610C>G (p.Arg204Gly) c.343C>G (p.Arg115Gly) c.340C>G (p.Arg114Gly) n.892C>G n.844C>G | |
| 9 | g.91220981G= | CA1863689127 | AUH | c.667C= (p.Arg223=) c.580C= (p.Arg194=) c.697C= (p.Arg233=) c.205C= (p.Arg69=) c.610C= (p.Arg204=) c.343C= (p.Arg115=) c.340C= (p.Arg114=) n.892C= n.844C= | |
| 9 | g.91220981G>T | CA5119759 | AUH | c.667C>A (p.Arg223=) c.580C>A (p.Arg194=) c.697C>A (p.Arg233=) c.205C>A (p.Arg69=) c.610C>A (p.Arg204=) c.343C>A (p.Arg115=) c.340C>A (p.Arg114=) n.892C>A n.844C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220982C>A | CA373835360 | AUH | c.666G>T (p.Gln222His) c.579G>T (p.Gln193His) c.696G>T (p.Gln232His) c.204G>T (p.Gln68His) c.609G>T (p.Gln203His) c.342G>T (p.Gln114His) c.339G>T (p.Gln113His) n.891G>T n.843G>T | |
| 9 | g.91220982C>G | CA373835359 | AUH | c.666G>C (p.Gln222His) c.579G>C (p.Gln193His) c.696G>C (p.Gln232His) c.204G>C (p.Gln68His) c.609G>C (p.Gln203His) c.342G>C (p.Gln114His) c.339G>C (p.Gln113His) n.891G>C n.843G>C | |
| 9 | g.91220982C>T | CA466226170 | AUH | c.666G>A (p.Gln222=) c.579G>A (p.Gln193=) c.696G>A (p.Gln232=) c.204G>A (p.Gln68=) c.609G>A (p.Gln203=) c.342G>A (p.Gln114=) c.339G>A (p.Gln113=) n.891G>A n.843G>A | |
| 9 | g.91220983T>A | CA373835361 | AUH | c.665A>T (p.Gln222Leu) c.578A>T (p.Gln193Leu) c.695A>T (p.Gln232Leu) c.203A>T (p.Gln68Leu) c.608A>T (p.Gln203Leu) c.341A>T (p.Gln114Leu) c.338A>T (p.Gln113Leu) n.890A>T n.842A>T | |
| 9 | g.91220983T>C | CA373835362 | AUH | c.665A>G (p.Gln222Arg) c.578A>G (p.Gln193Arg) c.695A>G (p.Gln232Arg) c.203A>G (p.Gln68Arg) c.608A>G (p.Gln203Arg) c.341A>G (p.Gln114Arg) c.338A>G (p.Gln113Arg) n.890A>G n.842A>G | |
| 9 | g.91220983T>G | CA373835363 | AUH | c.665A>C (p.Gln222Pro) c.578A>C (p.Gln193Pro) c.695A>C (p.Gln232Pro) c.203A>C (p.Gln68Pro) c.608A>C (p.Gln203Pro) c.341A>C (p.Gln114Pro) c.338A>C (p.Gln113Pro) n.890A>C n.842A>C | |
| 9 | g.91220984G>A | CA373835364 | AUH | c.664C>T (p.Gln222Ter) c.577C>T (p.Gln193Ter) c.694C>T (p.Gln232Ter) c.202C>T (p.Gln68Ter) c.607C>T (p.Gln203Ter) c.340C>T (p.Gln114Ter) c.337C>T (p.Gln113Ter) n.889C>T n.841C>T | |
| 9 | g.91220984G>C | CA373835365 | AUH | c.664C>G (p.Gln222Glu) c.577C>G (p.Gln193Glu) c.694C>G (p.Gln232Glu) c.202C>G (p.Gln68Glu) c.607C>G (p.Gln203Glu) c.340C>G (p.Gln114Glu) c.337C>G (p.Gln113Glu) n.889C>G n.841C>G | gnomAD v4 |
| 9 | g.91220984G>T | CA373835366 | AUH | c.664C>A (p.Gln222Lys) c.577C>A (p.Gln193Lys) c.694C>A (p.Gln232Lys) c.202C>A (p.Gln68Lys) c.607C>A (p.Gln203Lys) c.340C>A (p.Gln114Lys) c.337C>A (p.Gln113Lys) n.889C>A n.841C>A | |
| 9 | g.91220985T>A | CA466226177 | AUH | c.663A>T (p.Thr221=) c.576A>T (p.Thr192=) c.693A>T (p.Thr231=) c.201A>T (p.Thr67=) c.606A>T (p.Thr202=) c.339A>T (p.Thr113=) c.336A>T (p.Thr112=) n.888A>T n.840A>T | |
| 9 | g.91220985T>C | CA466226178 | AUH | c.663A>G (p.Thr221=) c.576A>G (p.Thr192=) c.693A>G (p.Thr231=) c.201A>G (p.Thr67=) c.606A>G (p.Thr202=) c.339A>G (p.Thr113=) c.336A>G (p.Thr112=) n.888A>G n.840A>G | |
| 9 | g.91220985T>G | CA466226180 | AUH | c.663A>C (p.Thr221=) c.576A>C (p.Thr192=) c.693A>C (p.Thr231=) c.201A>C (p.Thr67=) c.606A>C (p.Thr202=) c.339A>C (p.Thr113=) c.336A>C (p.Thr112=) n.888A>C n.840A>C | |
| 9 | g.91220985dup | CA2690635629 | AUH | c.663dup (p.Gln222ThrfsTer?) c.576dup (p.Gln193ThrfsTer?) c.693dup (p.Gln232ThrfsTer?) c.201dup (p.Gln68ThrfsTer?) c.606dup (p.Gln203ThrfsTer?) c.339dup (p.Gln114ThrfsTer?) c.336dup (p.Gln113ThrfsTer?) n.888dup n.840dup | gnomAD v4 |
| 9 | g.91220986G>A | CA5119760 | AUH | c.662C>T (p.Thr221Ile) c.575C>T (p.Thr192Ile) c.692C>T (p.Thr231Ile) c.200C>T (p.Thr67Ile) c.605C>T (p.Thr202Ile) c.338C>T (p.Thr113Ile) c.335C>T (p.Thr112Ile) n.887C>T n.839C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220986G>C | CA373835368 | AUH | c.662C>G (p.Thr221Arg) c.575C>G (p.Thr192Arg) c.692C>G (p.Thr231Arg) c.200C>G (p.Thr67Arg) c.605C>G (p.Thr202Arg) c.338C>G (p.Thr113Arg) c.335C>G (p.Thr112Arg) n.887C>G n.839C>G | |
| 9 | g.91220986G= | CA1863689132 | AUH | c.662C= (p.Thr221=) c.575C= (p.Thr192=) c.692C= (p.Thr231=) c.200C= (p.Thr67=) c.605C= (p.Thr202=) c.338C= (p.Thr113=) c.335C= (p.Thr112=) n.887C= n.839C= | |
| 9 | g.91220986G>T | CA373835367 | AUH | c.662C>A (p.Thr221Lys) c.575C>A (p.Thr192Lys) c.692C>A (p.Thr231Lys) c.200C>A (p.Thr67Lys) c.605C>A (p.Thr202Lys) c.338C>A (p.Thr113Lys) c.335C>A (p.Thr112Lys) n.887C>A n.839C>A | |
| 9 | g.91220986_91220987insACA | CA2785064711 | AUH | c.661_662insTGT (p.Thr221delinsMetSer) c.574_575insTGT (p.Thr192delinsMetSer) c.691_692insTGT (p.Thr231delinsMetSer) c.199_200insTGT (p.Thr67delinsMetSer) c.604_605insTGT (p.Thr202delinsMetSer) c.337_338insTGT (p.Thr113delinsMetSer) c.334_335insTGT (p.Thr112delinsMetSer) n.886_887insTGT n.838_839insTGT | |
| 9 | g.91220987del | CA2690635630 | AUH | c.661del (p.Thr221HisfsTer?) c.574del (p.Thr192HisfsTer?) c.691del (p.Thr231HisfsTer?) c.199del (p.Thr67HisfsTer?) c.604del (p.Thr202HisfsTer?) c.337del (p.Thr113HisfsTer?) c.334del (p.Thr112HisfsTer?) n.886del n.838del | gnomAD v4 |
| 9 | g.91220987T>A | CA373835369 | AUH | c.661A>T (p.Thr221Ser) c.574A>T (p.Thr192Ser) c.691A>T (p.Thr231Ser) c.199A>T (p.Thr67Ser) c.604A>T (p.Thr202Ser) c.337A>T (p.Thr113Ser) c.334A>T (p.Thr112Ser) n.886A>T n.838A>T | |
| 9 | g.91220987T>C | CA373835370 | AUH | c.661A>G (p.Thr221Ala) c.574A>G (p.Thr192Ala) c.691A>G (p.Thr231Ala) c.199A>G (p.Thr67Ala) c.604A>G (p.Thr202Ala) c.337A>G (p.Thr113Ala) c.334A>G (p.Thr112Ala) n.886A>G n.838A>G | gnomAD v4 |
| 9 | g.91220987T>G | CA373835371 | AUH | c.661A>C (p.Thr221Pro) c.574A>C (p.Thr192Pro) c.691A>C (p.Thr231Pro) c.199A>C (p.Thr67Pro) c.604A>C (p.Thr202Pro) c.337A>C (p.Thr113Pro) c.334A>C (p.Thr112Pro) n.886A>C n.838A>C | |
| 9 | g.91220987_91220988delinsTC | CA1863689138 | AUH | c.660_661delinsGA (p.Gly220=) c.573_574delinsGA (p.Gly191=) c.690_691delinsGA (p.Gly230=) c.198_199delinsGA (p.Gly66=) c.603_604delinsGA (p.Gly201=) c.336_337delinsGA (p.Gly112=) c.333_334delinsGA (p.Gly111=) n.885_886delinsGA n.837_838delinsGA | |
| 9 | g.91220988C>A | CA5119761 | AUH | c.660G>T (p.Gly220=) c.573G>T (p.Gly191=) c.690G>T (p.Gly230=) c.198G>T (p.Gly66=) c.603G>T (p.Gly201=) c.336G>T (p.Gly112=) c.333G>T (p.Gly111=) n.885G>T n.837G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220988C= | CA1863689142 | AUH | c.660G= (p.Gly220=) c.573G= (p.Gly191=) c.690G= (p.Gly230=) c.198G= (p.Gly66=) c.603G= (p.Gly201=) c.336G= (p.Gly112=) c.333G= (p.Gly111=) n.885G= n.837G= | |
| 9 | g.91220988C>G | CA466226187 | AUH | c.660G>C (p.Gly220=) c.573G>C (p.Gly191=) c.690G>C (p.Gly230=) c.198G>C (p.Gly66=) c.603G>C (p.Gly201=) c.336G>C (p.Gly112=) c.333G>C (p.Gly111=) n.885G>C n.837G>C | |
| 9 | g.91220988C>T | CA466226186 | AUH | c.660G>A (p.Gly220=) c.573G>A (p.Gly191=) c.690G>A (p.Gly230=) c.198G>A (p.Gly66=) c.603G>A (p.Gly201=) c.336G>A (p.Gly112=) c.333G>A (p.Gly111=) n.885G>A n.837G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220993dup | CA589426888 | AUH | c.660dup c.573dup c.690dup c.198dup c.603dup c.336dup c.333dup n.885dup n.837dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220993del | CA195893163 | AUH | c.660del c.573del c.690del c.198del c.603del c.336del c.333del n.885del n.837del | dbSNP |
| 9 | g.91220989C>A | CA373835372 | AUH | c.659G>T (p.Gly220Val) c.572G>T (p.Gly191Val) c.689G>T (p.Gly230Val) c.197G>T (p.Gly66Val) c.602G>T (p.Gly201Val) c.335G>T (p.Gly112Val) c.332G>T (p.Gly111Val) n.884G>T n.836G>T | |
| 9 | g.91220989C= | CA1863689145 | AUH | c.659G= (p.Gly220=) c.572G= (p.Gly191=) c.689G= (p.Gly230=) c.197G= (p.Gly66=) c.602G= (p.Gly201=) c.335G= (p.Gly112=) c.332G= (p.Gly111=) n.884G= n.836G= | |
| 9 | g.91220989C>G | CA373835373 | AUH | c.659G>C (p.Gly220Ala) c.572G>C (p.Gly191Ala) c.689G>C (p.Gly230Ala) c.197G>C (p.Gly66Ala) c.602G>C (p.Gly201Ala) c.335G>C (p.Gly112Ala) c.332G>C (p.Gly111Ala) n.884G>C n.836G>C | gnomAD v4 |
| 9 | g.91220989C>T | CA373835374 | AUH | c.659G>A (p.Gly220Glu) c.572G>A (p.Gly191Glu) c.689G>A (p.Gly230Glu) c.197G>A (p.Gly66Glu) c.602G>A (p.Gly201Glu) c.335G>A (p.Gly112Glu) c.332G>A (p.Gly111Glu) n.884G>A n.836G>A | dbSNP gnomAD v2 |
| 9 | g.91220989_91220990insT | CA1863689149 | AUH | c.658_659insA (p.Gly220GlufsTer?) c.571_572insA (p.Gly191GlufsTer?) c.688_689insA (p.Gly230GlufsTer?) c.196_197insA (p.Gly66GlufsTer?) c.601_602insA (p.Gly201GlufsTer?) c.334_335insA (p.Gly112GlufsTer?) c.331_332insA (p.Gly111GlufsTer?) n.883_884insA n.835_836insA | dbSNP gnomAD v4 |
| 9 | g.91220990C>A | CA373835375 | AUH | c.658G>T (p.Gly220Trp) c.571G>T (p.Gly191Trp) c.688G>T (p.Gly230Trp) c.196G>T (p.Gly66Trp) c.601G>T (p.Gly201Trp) c.334G>T (p.Gly112Trp) c.331G>T (p.Gly111Trp) n.883G>T n.835G>T | COSMIC |
| 9 | g.91220990C= | CA1863689150 | AUH | c.658G= (p.Gly220=) c.571G= (p.Gly191=) c.688G= (p.Gly230=) c.196G= (p.Gly66=) c.601G= (p.Gly201=) c.334G= (p.Gly112=) c.331G= (p.Gly111=) n.883G= n.835G= | |
| 9 | g.91220990C>G | CA373835376 | AUH | c.658G>C (p.Gly220Arg) c.571G>C (p.Gly191Arg) c.688G>C (p.Gly230Arg) c.196G>C (p.Gly66Arg) c.601G>C (p.Gly201Arg) c.334G>C (p.Gly112Arg) c.331G>C (p.Gly111Arg) n.883G>C n.835G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220990C>T | CA373835377 | AUH | c.658G>A (p.Gly220Arg) c.571G>A (p.Gly191Arg) c.688G>A (p.Gly230Arg) c.196G>A (p.Gly66Arg) c.601G>A (p.Gly201Arg) c.334G>A (p.Gly112Arg) c.331G>A (p.Gly111Arg) n.883G>A n.835G>A | dbSNP |
| 9 | g.91220991C>A | CA466226193 | AUH | c.657G>T (p.Gly219=) c.570G>T (p.Gly190=) c.687G>T (p.Gly229=) c.195G>T (p.Gly65=) c.600G>T (p.Gly200=) c.333G>T (p.Gly111=) c.330G>T (p.Gly110=) n.882G>T n.834G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220991C= | CA1863689154 | AUH | c.657G= (p.Gly219=) c.570G= (p.Gly190=) c.687G= (p.Gly229=) c.195G= (p.Gly65=) c.600G= (p.Gly200=) c.333G= (p.Gly111=) c.330G= (p.Gly110=) n.882G= n.834G= | |
| 9 | g.91220991C>G | CA466226191 | AUH | c.657G>C (p.Gly219=) c.570G>C (p.Gly190=) c.687G>C (p.Gly229=) c.195G>C (p.Gly65=) c.600G>C (p.Gly200=) c.333G>C (p.Gly111=) c.330G>C (p.Gly110=) n.882G>C n.834G>C | |
| 9 | g.91220991C>T | CA5119762 | AUH | c.657G>A (p.Gly219=) c.570G>A (p.Gly190=) c.687G>A (p.Gly229=) c.195G>A (p.Gly65=) c.600G>A (p.Gly200=) c.333G>A (p.Gly111=) c.330G>A (p.Gly110=) n.882G>A n.834G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220992C>A | CA373835379 | AUH | c.656G>T (p.Gly219Val) c.569G>T (p.Gly190Val) c.686G>T (p.Gly229Val) c.194G>T (p.Gly65Val) c.599G>T (p.Gly200Val) c.332G>T (p.Gly111Val) c.329G>T (p.Gly110Val) n.881G>T n.833G>T | gnomAD v4 |
| 9 | g.91220992C= | CA1863689160 | AUH | c.656G= (p.Gly219=) c.569G= (p.Gly190=) c.686G= (p.Gly229=) c.194G= (p.Gly65=) c.599G= (p.Gly200=) c.332G= (p.Gly111=) c.329G= (p.Gly110=) n.881G= n.833G= | |
| 9 | g.91220992C>G | CA373835380 | AUH | c.656G>C (p.Gly219Ala) c.569G>C (p.Gly190Ala) c.686G>C (p.Gly229Ala) c.194G>C (p.Gly65Ala) c.599G>C (p.Gly200Ala) c.332G>C (p.Gly111Ala) c.329G>C (p.Gly110Ala) n.881G>C n.833G>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.91220992C>T | CA373835378 | AUH | c.656G>A (p.Gly219Glu) c.569G>A (p.Gly190Glu) c.686G>A (p.Gly229Glu) c.194G>A (p.Gly65Glu) c.599G>A (p.Gly200Glu) c.332G>A (p.Gly111Glu) c.329G>A (p.Gly110Glu) n.881G>A n.833G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91220992_91220994delinsCCT | CA1863689159 | AUH | c.656-2_656delinsAGG c.569-2_569delinsAGG c.686-2_686delinsAGG c.194-2_194delinsAGG c.599-2_599delinsAGG c.332-2_332delinsAGG c.329-2_329delinsAGG n.881-2_881delinsAGG n.833-2_833delinsAGG | |
| 9 | g.91220993C>A | CA373835381 | AUH | c.656-1G>T (n.656-1G>T) c.569-1G>T (n.569-1G>T) c.686-1G>T (n.686-1G>T) c.194-1G>T (n.194-1G>T) c.599-1G>T (n.599-1G>T) c.332-1G>T (n.332-1G>T) c.329-1G>T (n.329-1G>T) n.881-1G>T n.833-1G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91220993C= | CA1863689165 | AUH | c.656-1G= (n.656-1G=) c.569-1G= (n.569-1G=) c.686-1G= (n.686-1G=) c.194-1G= (n.194-1G=) c.599-1G= (n.599-1G=) c.332-1G= (n.332-1G=) c.329-1G= (n.329-1G=) n.881-1G= n.833-1G= | |
| 9 | g.91220993C>G | CA195893165 | AUH | c.656-1G>C (n.656-1G>C) c.569-1G>C (n.569-1G>C) c.686-1G>C (n.686-1G>C) c.194-1G>C (n.194-1G>C) c.599-1G>C (n.599-1G>C) c.332-1G>C (n.332-1G>C) c.329-1G>C (n.329-1G>C) n.881-1G>C n.833-1G>C | dbSNP |
| 9 | g.91220993C>T | CA373835382 | AUH | c.656-1G>A (n.656-1G>A) c.569-1G>A (n.569-1G>A) c.686-1G>A (n.686-1G>A) c.194-1G>A (n.194-1G>A) c.599-1G>A (n.599-1G>A) c.332-1G>A (n.332-1G>A) c.329-1G>A (n.329-1G>A) n.881-1G>A n.833-1G>A | |
| 9 | g.91220993_91220994del | CA5119763 | AUH | c.656-2_656-1del (n.656-2_656-1del) c.569-2_569-1del (n.569-2_569-1del) c.686-2_686-1del (n.686-2_686-1del) c.194-2_194-1del (n.194-2_194-1del) c.599-2_599-1del (n.599-2_599-1del) c.332-2_332-1del (n.332-2_332-1del) c.329-2_329-1del (n.329-2_329-1del) n.881-2_881-1del n.833-2_833-1del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220993_91220994delinsCT | CA1863689162 | AUH | c.656-2_656-1delinsAG (n.656-2_656-1delinsAG) c.569-2_569-1delinsAG (n.569-2_569-1delinsAG) c.686-2_686-1delinsAG (n.686-2_686-1delinsAG) c.194-2_194-1delinsAG (n.194-2_194-1delinsAG) c.599-2_599-1delinsAG (n.599-2_599-1delinsAG) c.332-2_332-1delinsAG (n.332-2_332-1delinsAG) c.329-2_329-1delinsAG (n.329-2_329-1delinsAG) n.881-2_881-1delinsAG n.833-2_833-1delinsAG | |
| 9 | g.91220994del | CA5119764 | AUH | c.656-2del (n.656-2del) c.569-2del (n.569-2del) c.686-2del (n.686-2del) c.194-2del (n.194-2del) c.599-2del (n.599-2del) c.332-2del (n.332-2del) c.329-2del (n.329-2del) n.881-2del n.833-2del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220994T>A | CA373835383 | AUH | c.656-2A>T (n.656-2A>T) c.569-2A>T (n.569-2A>T) c.686-2A>T (n.686-2A>T) c.194-2A>T (n.194-2A>T) c.599-2A>T (n.599-2A>T) c.332-2A>T (n.332-2A>T) c.329-2A>T (n.329-2A>T) n.881-2A>T n.833-2A>T | |
| 9 | g.91220994T>C | CA373835384 | AUH | c.656-2A>G (n.656-2A>G) c.569-2A>G (n.569-2A>G) c.686-2A>G (n.686-2A>G) c.194-2A>G (n.194-2A>G) c.599-2A>G (n.599-2A>G) c.332-2A>G (n.332-2A>G) c.329-2A>G (n.329-2A>G) n.881-2A>G n.833-2A>G | |
| 9 | g.91220994T>G | CA373835385 | AUH | c.656-2A>C (n.656-2A>C) c.569-2A>C (n.569-2A>C) c.686-2A>C (n.686-2A>C) c.194-2A>C (n.194-2A>C) c.599-2A>C (n.599-2A>C) c.332-2A>C (n.332-2A>C) c.329-2A>C (n.329-2A>C) n.881-2A>C n.833-2A>C | |
| 9 | g.91220994_91220995del | CA373835386 | AUH | c.656-3_656-2del (n.656-3_656-2del) c.569-3_569-2del (n.569-3_569-2del) c.686-3_686-2del (n.686-3_686-2del) c.194-3_194-2del (n.194-3_194-2del) c.599-3_599-2del (n.599-3_599-2del) c.332-3_332-2del (n.332-3_332-2del) c.329-3_329-2del (n.329-3_329-2del) n.881-3_881-2del n.833-3_833-2del | |
| 9 | g.91220994_91220995insA | CA2785064712 | AUH | c.656-3_656-2insT (n.656-3_656-2insT) c.569-3_569-2insT (n.569-3_569-2insT) c.686-3_686-2insT (n.686-3_686-2insT) c.194-3_194-2insT (n.194-3_194-2insT) c.599-3_599-2insT (n.599-3_599-2insT) c.332-3_332-2insT (n.332-3_332-2insT) c.329-3_329-2insT (n.329-3_329-2insT) n.881-3_881-2insT n.833-3_833-2insT | |
| 9 | g.91220995del | CA373835387 | AUH | c.656-3del (n.656-3del) c.569-3del (n.569-3del) c.686-3del (n.686-3del) c.194-3del (n.194-3del) c.599-3del (n.599-3del) c.332-3del (n.332-3del) c.329-3del (n.329-3del) n.881-3del n.833-3del | |
| 9 | g.91220995G>A | CA2690635631 | AUH | c.656-3C>T (n.656-3C>T) c.569-3C>T (n.569-3C>T) c.686-3C>T (n.686-3C>T) c.194-3C>T (n.194-3C>T) c.599-3C>T (n.599-3C>T) c.332-3C>T (n.332-3C>T) c.329-3C>T (n.329-3C>T) n.881-3C>T n.833-3C>T | gnomAD v4 |
| 9 | g.91220995G>C | CA2579377717 | AUH | c.656-3C>G (n.656-3C>G) c.569-3C>G (n.569-3C>G) c.686-3C>G (n.686-3C>G) c.194-3C>G (n.194-3C>G) c.599-3C>G (n.599-3C>G) c.332-3C>G (n.332-3C>G) c.329-3C>G (n.329-3C>G) n.881-3C>G n.833-3C>G | |
| 9 | g.91220997G>A | CA5119765 | AUH | c.656-5C>T (n.656-5C>T) c.569-5C>T (n.569-5C>T) c.686-5C>T (n.686-5C>T) c.194-5C>T (n.194-5C>T) c.599-5C>T (n.599-5C>T) c.332-5C>T (n.332-5C>T) c.329-5C>T (n.329-5C>T) n.881-5C>T n.833-5C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220997G= | CA1863689173 | AUH | c.656-5C= (n.656-5C=) c.569-5C= (n.569-5C=) c.686-5C= (n.686-5C=) c.194-5C= (n.194-5C=) c.599-5C= (n.599-5C=) c.332-5C= (n.332-5C=) c.329-5C= (n.329-5C=) n.881-5C= n.833-5C= | |
| 9 | g.91220997G>T | CA2785064713 | AUH | c.656-5C>A (n.656-5C>A) c.569-5C>A (n.569-5C>A) c.686-5C>A (n.686-5C>A) c.194-5C>A (n.194-5C>A) c.599-5C>A (n.599-5C>A) c.332-5C>A (n.332-5C>A) c.329-5C>A (n.329-5C>A) n.881-5C>A n.833-5C>A | |
| 9 | g.91220998G>A | CA2690635632 | AUH | c.656-6C>T (n.656-6C>T) c.569-6C>T (n.569-6C>T) c.686-6C>T (n.686-6C>T) c.194-6C>T (n.194-6C>T) c.599-6C>T (n.599-6C>T) c.332-6C>T (n.332-6C>T) c.329-6C>T (n.329-6C>T) n.881-6C>T n.833-6C>T | gnomAD v4 |
| 9 | g.91220999G>A | CA2690635633 | AUH | c.656-7C>T (n.656-7C>T) c.569-7C>T (n.569-7C>T) c.686-7C>T (n.686-7C>T) c.194-7C>T (n.194-7C>T) c.599-7C>T (n.599-7C>T) c.332-7C>T (n.332-7C>T) c.329-7C>T (n.329-7C>T) n.881-7C>T n.833-7C>T | gnomAD v4 |
| 9 | g.91221000G>A | CA5119766 | AUH | c.656-8C>T (n.656-8C>T) c.569-8C>T (n.569-8C>T) c.686-8C>T (n.686-8C>T) c.194-8C>T (n.194-8C>T) c.599-8C>T (n.599-8C>T) c.332-8C>T (n.332-8C>T) c.329-8C>T (n.329-8C>T) n.881-8C>T n.833-8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91221000G= | CA1863689177 | AUH | c.656-8C= (n.656-8C=) c.569-8C= (n.569-8C=) c.686-8C= (n.686-8C=) c.194-8C= (n.194-8C=) c.599-8C= (n.599-8C=) c.332-8C= (n.332-8C=) c.329-8C= (n.329-8C=) n.881-8C= n.833-8C= | |
| 9 | g.91221001T>A | CA2690635634 | AUH | c.656-9A>T (n.656-9A>T) c.569-9A>T (n.569-9A>T) c.686-9A>T (n.686-9A>T) c.194-9A>T (n.194-9A>T) c.599-9A>T (n.599-9A>T) c.332-9A>T (n.332-9A>T) c.329-9A>T (n.329-9A>T) n.881-9A>T n.833-9A>T | gnomAD v4 |
| 9 | g.91221001T>G | CA589426899 | AUH | c.656-9A>C (n.656-9A>C) c.569-9A>C (n.569-9A>C) c.686-9A>C (n.686-9A>C) c.194-9A>C (n.194-9A>C) c.599-9A>C (n.599-9A>C) c.332-9A>C (n.332-9A>C) c.329-9A>C (n.329-9A>C) n.881-9A>C n.833-9A>C | dbSNP gnomAD v2 |
| 9 | g.91221001T= | CA1863689182 | AUH | c.656-9A= (n.656-9A=) c.569-9A= (n.569-9A=) c.686-9A= (n.686-9A=) c.194-9A= (n.194-9A=) c.599-9A= (n.599-9A=) c.332-9A= (n.332-9A=) c.329-9A= (n.329-9A=) n.881-9A= n.833-9A= | |
| 9 | g.91221004A= | CA1863689184 | AUH | c.656-12T= (n.656-12T=) c.569-12T= (n.569-12T=) c.686-12T= (n.686-12T=) c.194-12T= (n.194-12T=) c.599-12T= (n.599-12T=) c.332-12T= (n.332-12T=) c.329-12T= (n.329-12T=) n.881-12T= n.833-12T= | |
| 9 | g.91221004A>C | CA2690635635 | AUH | c.656-12T>G (n.656-12T>G) c.569-12T>G (n.569-12T>G) c.686-12T>G (n.686-12T>G) c.194-12T>G (n.194-12T>G) c.599-12T>G (n.599-12T>G) c.332-12T>G (n.332-12T>G) c.329-12T>G (n.329-12T>G) n.881-12T>G n.833-12T>G | gnomAD v4 |
| 9 | g.91221004A>G | CA589426901 | AUH | c.656-12T>C (n.656-12T>C) c.569-12T>C (n.569-12T>C) c.686-12T>C (n.686-12T>C) c.194-12T>C (n.194-12T>C) c.599-12T>C (n.599-12T>C) c.332-12T>C (n.332-12T>C) c.329-12T>C (n.329-12T>C) n.881-12T>C n.833-12T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91221004_91221008delinsAAGAG | CA1863689183 | AUH | c.656-16_656-12delinsCTCTT (n.656-16_656-12delinsCTCTT) c.569-16_569-12delinsCTCTT (n.569-16_569-12delinsCTCTT) c.686-16_686-12delinsCTCTT (n.686-16_686-12delinsCTCTT) c.194-16_194-12delinsCTCTT (n.194-16_194-12delinsCTCTT) c.599-16_599-12delinsCTCTT (n.599-16_599-12delinsCTCTT) c.332-16_332-12delinsCTCTT (n.332-16_332-12delinsCTCTT) c.329-16_329-12delinsCTCTT (n.329-16_329-12delinsCTCTT) n.881-16_881-12delinsCTCTT n.833-16_833-12delinsCTCTT | |
| 9 | g.91221012_91221013del | CA5119768 | AUH | c.656-14_656-13del (n.656-14_656-13del) c.569-14_569-13del (n.569-14_569-13del) c.686-14_686-13del (n.686-14_686-13del) c.194-14_194-13del (n.194-14_194-13del) c.599-14_599-13del (n.599-14_599-13del) c.332-14_332-13del (n.332-14_332-13del) c.329-14_329-13del (n.329-14_329-13del) n.881-14_881-13del n.833-14_833-13del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91221010_91221013del | CA5119767 | AUH | c.656-16_656-13del (n.656-16_656-13del) c.569-16_569-13del (n.569-16_569-13del) c.686-16_686-13del (n.686-16_686-13del) c.194-16_194-13del (n.194-16_194-13del) c.599-16_599-13del (n.599-16_599-13del) c.332-16_332-13del (n.332-16_332-13del) c.329-16_329-13del (n.329-16_329-13del) n.881-16_881-13del n.833-16_833-13del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91221006G>C | CA2690635636 | AUH | c.656-14C>G (n.656-14C>G) c.569-14C>G (n.569-14C>G) c.686-14C>G (n.686-14C>G) c.194-14C>G (n.194-14C>G) c.599-14C>G (n.599-14C>G) c.332-14C>G (n.332-14C>G) c.329-14C>G (n.329-14C>G) n.881-14C>G n.833-14C>G | gnomAD v4 |
| 9 | g.91221008G>C | CA2690635637 | AUH | c.656-16C>G (n.656-16C>G) c.569-16C>G (n.569-16C>G) c.686-16C>G (n.686-16C>G) c.194-16C>G (n.194-16C>G) c.599-16C>G (n.599-16C>G) c.332-16C>G (n.332-16C>G) c.329-16C>G (n.329-16C>G) n.881-16C>G n.833-16C>G | gnomAD v4 |
| 9 | g.91221009A>C | CA2697557871 | AUH | c.656-17T>G (n.656-17T>G) c.569-17T>G (n.569-17T>G) c.686-17T>G (n.686-17T>G) c.194-17T>G (n.194-17T>G) c.599-17T>G (n.599-17T>G) c.332-17T>G (n.332-17T>G) c.329-17T>G (n.329-17T>G) n.881-17T>G n.833-17T>G | ClinVar |
| 9 | g.91221010G>A | CA2579377718 | AUH | c.656-18C>T (n.656-18C>T) c.569-18C>T (n.569-18C>T) c.686-18C>T (n.686-18C>T) c.194-18C>T (n.194-18C>T) c.599-18C>T (n.599-18C>T) c.332-18C>T (n.332-18C>T) c.329-18C>T (n.329-18C>T) n.881-18C>T n.833-18C>T | gnomAD v4 |
| 9 | g.91221010G>C | CA2690635638 | AUH | c.656-18C>G (n.656-18C>G) c.569-18C>G (n.569-18C>G) c.686-18C>G (n.686-18C>G) c.194-18C>G (n.194-18C>G) c.599-18C>G (n.599-18C>G) c.332-18C>G (n.332-18C>G) c.329-18C>G (n.329-18C>G) n.881-18C>G n.833-18C>G | gnomAD v4 |
| 9 | g.91221012G>A | CA2690635639 | AUH | c.656-20C>T (n.656-20C>T) c.569-20C>T (n.569-20C>T) c.686-20C>T (n.686-20C>T) c.194-20C>T (n.194-20C>T) c.599-20C>T (n.599-20C>T) c.332-20C>T (n.332-20C>T) c.329-20C>T (n.329-20C>T) n.881-20C>T n.833-20C>T | gnomAD v4 |
| 9 | g.91221012G>C | CA2690635640 | AUH | c.656-20C>G (n.656-20C>G) c.569-20C>G (n.569-20C>G) c.686-20C>G (n.686-20C>G) c.194-20C>G (n.194-20C>G) c.599-20C>G (n.599-20C>G) c.332-20C>G (n.332-20C>G) c.329-20C>G (n.329-20C>G) n.881-20C>G n.833-20C>G | gnomAD v4 |
| 9 | g.91221012G>T | CA2579377719 | AUH | c.656-20C>A (n.656-20C>A) c.569-20C>A (n.569-20C>A) c.686-20C>A (n.686-20C>A) c.194-20C>A (n.194-20C>A) c.599-20C>A (n.599-20C>A) c.332-20C>A (n.332-20C>A) c.329-20C>A (n.329-20C>A) n.881-20C>A n.833-20C>A | gnomAD v4 |
| 9 | g.91221019_91221185del | CA2785064714 | AUH | c.656-187_656-21del (n.656-187_656-21del) c.569-187_569-21del (n.569-187_569-21del) c.686-187_686-21del (n.686-187_686-21del) c.194-187_194-21del (n.194-187_194-21del) c.599-187_599-21del (n.599-187_599-21del) c.332-187_332-21del (n.332-187_332-21del) c.329-187_329-21del (n.329-187_329-21del) n.881-187_881-21del n.833-187_833-21del | |
| 9 | g.91221015A>C | CA2690635641 | AUH | c.656-23T>G (n.656-23T>G) c.569-23T>G (n.569-23T>G) c.686-23T>G (n.686-23T>G) c.194-23T>G (n.194-23T>G) c.599-23T>G (n.599-23T>G) c.332-23T>G (n.332-23T>G) c.329-23T>G (n.329-23T>G) n.881-23T>G n.833-23T>G | gnomAD v4 |
| 9 | g.91221016A>T | CA2690635642 | AUH | c.656-24T>A (n.656-24T>A) c.569-24T>A (n.569-24T>A) c.686-24T>A (n.686-24T>A) c.194-24T>A (n.194-24T>A) c.599-24T>A (n.599-24T>A) c.332-24T>A (n.332-24T>A) c.329-24T>A (n.329-24T>A) n.881-24T>A n.833-24T>A | gnomAD v4 |
| 9 | g.91221017G>A | CA5119769 | AUH | c.656-25C>T (n.656-25C>T) c.569-25C>T (n.569-25C>T) c.686-25C>T (n.686-25C>T) c.194-25C>T (n.194-25C>T) c.599-25C>T (n.599-25C>T) c.332-25C>T (n.332-25C>T) c.329-25C>T (n.329-25C>T) n.881-25C>T n.833-25C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91221017G= | CA1863689190 | AUH | c.656-25C= (n.656-25C=) c.569-25C= (n.569-25C=) c.686-25C= (n.686-25C=) c.194-25C= (n.194-25C=) c.599-25C= (n.599-25C=) c.332-25C= (n.332-25C=) c.329-25C= (n.329-25C=) n.881-25C= n.833-25C= | |
| 9 | g.91221018G>A | CA2579377720 | AUH | c.656-26C>T (n.656-26C>T) c.569-26C>T (n.569-26C>T) c.686-26C>T (n.686-26C>T) c.194-26C>T (n.194-26C>T) c.599-26C>T (n.599-26C>T) c.332-26C>T (n.332-26C>T) c.329-26C>T (n.329-26C>T) n.881-26C>T n.833-26C>T | |
| 9 | g.91221018G>C | CA2690635643 | AUH | c.656-26C>G (n.656-26C>G) c.569-26C>G (n.569-26C>G) c.686-26C>G (n.686-26C>G) c.194-26C>G (n.194-26C>G) c.599-26C>G (n.599-26C>G) c.332-26C>G (n.332-26C>G) c.329-26C>G (n.329-26C>G) n.881-26C>G n.833-26C>G | gnomAD v4 |
| 9 | g.91221018G= | CA1863689192 | AUH | c.656-26C= (n.656-26C=) c.569-26C= (n.569-26C=) c.686-26C= (n.686-26C=) c.194-26C= (n.194-26C=) c.599-26C= (n.599-26C=) c.332-26C= (n.332-26C=) c.329-26C= (n.329-26C=) n.881-26C= n.833-26C= | |
| 9 | g.91221018G>T | CA589426908 | AUH | c.656-26C>A (n.656-26C>A) c.569-26C>A (n.569-26C>A) c.686-26C>A (n.686-26C>A) c.194-26C>A (n.194-26C>A) c.599-26C>A (n.599-26C>A) c.332-26C>A (n.332-26C>A) c.329-26C>A (n.329-26C>A) n.881-26C>A n.833-26C>A | dbSNP gnomAD v2 gnomAD v4 |